Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
T/A/C | Ancestral: T | Ambiguity code: H | MAF: 0.01 (C)
Location

Chromosome 5:142779317 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM980957

Most severe consequence
Evidence status

Clinical significance

This variation has 8 synonyms - click the plus to show

This variation has 36 HGVS names - click the plus to show

Variant allele A
5:g.142779317T>A
ENST00000394464.2:c.1088A>T
ENSP00000377977.2:p.Asn363Ile
ENST00000231509.3:c.1088A>T
ENSP00000231509.3:p.Asn363Ile
ENST00000504572.1:c.1088A>T
ENSP00000422518.1:p.Asn363Ile
ENST00000503201.1:c.1088A>T
ENSP00000427672.1:p.Asn363Ile
ENST00000424646.2:c.1010A>T
ENSP00000405282.2:p.Asn337Ile
ENST00000343796.2:c.1088A>T
ENSP00000343205.2:p.Asn363Ile
ENST00000416954.2:c.-8+4624A>T
ENST00000415690.2:c.1088A>T
ENSP00000387672.2:p.Asn363Ile
ENST00000394466.2:c.1088A>T
ENSP00000377979.2:p.Asn363Ile

Variant allele C
5:g.142779317T>C
ENST00000394464.2:c.1088A>G
ENSP00000377977.2:p.Asn363Ser
ENST00000231509.3:c.1088A>G
ENSP00000231509.3:p.Asn363Ser
ENST00000504572.1:c.1088A>G
ENSP00000422518.1:p.Asn363Ser
ENST00000503201.1:c.1088A>G
ENSP00000427672.1:p.Asn363Ser
ENST00000424646.2:c.1010A>G
ENSP00000405282.2:p.Asn337Ser
ENST00000343796.2:c.1088A>G
ENSP00000343205.2:p.Asn363Ser
ENST00000416954.2:c.-8+4624A>G
ENST00000415690.2:c.1088A>G
ENSP00000387672.2:p.Asn363Ser
ENST00000394466.2:c.1088A>G
ENSP00000377979.2:p.Asn363Ser

This variation has assays on 7 chips - click the plus to show

Variation displays