Linked Data
ClinVar Variation Id:
1454
ClinVar RCV Id:
RCV000001519
dbSNP Id:
rs118204104
gnomAD v3:
11-119088638-G-A
gnomAD v4:
11-119088638-G-A
PubMed:
PMID:8270254
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119088638G>A , CM000673.2:g.119088638G>A | GRCh38 |
| NC_000011.9:g.118959348G>A , CM000673.1:g.118959348G>A | GRCh37 |
| NC_000011.8:g.118464558G>A | NCBI36 |
| NG_008093.1:g.8762G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.-75G>A | ENSP00000509288.1:n.-75G>A | |
| ENST00000686690.1:n.253G>A | ||
| ENST00000691144.1:n.1373G>A | ||
| ENST00000691249.1:n.675G>A | ||
| ENST00000442944.7:c.91G>A | ENSP00000392041.3:p.Ala31Thr | |
| ENST00000534956.2:n.40G>A | ||
| ENST00000536813.6:c.40G>A | ENSP00000438726.2:p.Ala14Thr | |
| ENST00000546302.6:c.91G>A | ENSP00000445599.1:p.Ala31Thr | |
| ENST00000640813.1:c.40G>A | ENSP00000491061.1:p.Ala14Thr | |
| ENST00000648026.1:c.85G>A | ENSP00000498044.1:p.Ala29Thr | |
| ENST00000648374.1:c.40G>A | ENSP00000497255.1:p.Ala14Thr | |
| ENST00000648488.1:c.40G>A | ENSP00000498079.1:p.Ala14Thr | |
| ENST00000649823.1:n.308G>A | ||
| ENST00000649868.1:c.34-462G>A | ENSP00000497548.1:n.34-462G>A | |
| ENST00000650101.1:c.40G>A | ENSP00000496970.1:p.Ala14Thr | |
| ENST00000650307.1:n.543G>A | ||
| ENST00000652429.1:c.91G>A MANE Select | ENSP00000498786.1:p.Ala31Thr | |
| ENST00000278715.7:c.91G>A | ENSP00000278715.3:p.Ala31Thr | |
| ENST00000392841.1:c.40G>A | ENSP00000376584.1:p.Ala14Thr | |
| ENST00000442944.6:c.40G>A | ENSP00000392041.2:p.Ala14Thr | |
| ENST00000534956.1:n.7G>A | ||
| ENST00000535253.5:c.40G>A | ENSP00000442079.1:p.Ala14Thr | |
| ENST00000535793.5:c.37G>A | ENSP00000439904.1:p.Ala13Thr | |
| ENST00000536185.5:n.259G>A | ||
| ENST00000536813.5:c.91G>A | ENSP00000438726.1:p.Ala31Thr | |
| ENST00000537841.5:c.40G>A | ENSP00000444730.1:p.Ala14Thr | |
| ENST00000539986.5:c.40G>A | ENSP00000440092.1:p.Ala14Thr | |
| ENST00000542044.5:n.162G>A | ||
| ENST00000542345.5:n.229G>A | ||
| ENST00000542729.5:c.40G>A | ENSP00000443058.1:p.Ala14Thr | |
| ENST00000542822.5:c.182G>A | ENSP00000444817.1:p.Cys61Tyr | |
| ENST00000543090.5:c.37G>A | ENSP00000445429.1:p.Ala13Thr | |
| ENST00000543543.5:n.326G>A | ||
| ENST00000543821.5:n.237G>A | ||
| ENST00000544360.5:n.59G>A | ||
| ENST00000544387.5:c.91G>A | ENSP00000438424.1:p.Ala31Thr | |
| ENST00000545621.5:c.91G>A | ENSP00000444849.1:p.Ala31Thr | |
| ENST00000545901.5:n.244G>A | ||
| ENST00000546226.5:n.150G>A | ||
| ENST00000546302.5:c.91G>A | ENSP00000445599.1:p.Ala31Thr | |
| NM_000190.3:c.91G>A | NP_000181.2:p.Ala31Thr | |
| NM_001024382.1:c.40G>A | NP_001019553.1:p.Ala14Thr | |
| NM_001258208.1:c.91G>A | NP_001245137.1:p.Ala31Thr | |
| NM_001258209.1:c.40G>A | NP_001245138.1:p.Ala14Thr | |
| XM_005271531.1:c.40G>A | XP_005271588.1:p.Ala14Thr | |
| XM_005271532.1:c.40G>A | XP_005271589.1:p.Ala14Thr | |
| XM_005271533.2:c.37G>A | XP_005271590.1:p.Ala13Thr | |
| XM_011542796.1:c.-75G>A | XP_011541098.1:n.-75G>A | |
| NM_000190.4:c.91G>A MANE Select | NP_000181.2:p.Ala31Thr | |
| NM_001024382.2:c.40G>A | NP_001019553.1:p.Ala14Thr | |
| XM_005271533.3:c.37G>A | XP_005271590.1:p.Ala13Thr | |
| XM_017017629.1:c.40G>A | XP_016873118.1:p.Ala14Thr | |
| XM_024448460.1:c.37G>A | XP_024304228.1:p.Ala13Thr | |
| NM_001258208.2:c.91G>A | NP_001245137.1:p.Ala31Thr | |
| NM_001258209.2:c.40G>A | NP_001245138.1:p.Ala14Thr |