Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)
Location

Chromosome 1:227073271 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM032996

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 15 HGVS names - click the plus to show

1:g.227073271C>T
ENST00000422240.2:c.389C>T
ENSP00000403737.2:p.Ser130Leu
ENST00000496965.1:c.389C>T
ENSP00000430647.1:p.Ser130Leu
ENST00000366782.1:c.488C>T
ENSP00000355746.1:p.Ser163Leu
ENST00000472139.2:c.-44C>T
ENST00000391872.2:c.488C>T
ENSP00000375745.2:p.Ser163Leu
ENST00000340188.4:c.389C>T
ENSP00000339860.4:p.Ser130Leu
ENST00000366783.3:c.389C>T
ENSP00000355747.3:p.Ser130Leu
ENST00000460775.1:c.-21-2521C>T

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays