Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

Alleles
G/T | Ancestral: G | Ambiguity code: K | MAF: 0.32 (T)
Location

Chromosome 15:73927205 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM074329

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 14 HGVS names - click the plus to show

15:g.73927205G>T
ENST00000564963.1:n.42+449C>A
ENST00000565756.2:n.183+572C>A
ENST00000562965.1:n.184+572C>A
ENST00000566011.2:c.422G>T
ENSP00000457827.1:p.Arg141Leu
ENST00000564194.2:n.184+860C>A
ENST00000565416.1:n.164+572C>A
ENST00000568087.2:n.166+572C>A
ENST00000566675.2:n.139+860C>A
ENST00000261921.7:c.422G>T
ENSP00000261921.7:p.Arg141Leu
ENST00000567257.2:n.133+449C>A
ENST00000562739.2:n.42+449C>A

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni1-Quad

Variation displays