Linked Data
ClinVar Variation Id:
403491
ClinVar RCV Id:
RCV000454428
dbSNP Id:
rs61754170
ExAC:
12:56737256 C / A
gnomAD v2:
12-56737256-C-A
gnomAD v3:
12-56343472-C-A
gnomAD v4:
12-56343472-C-A
COSMIC:
COSM4594941
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56343472C>A , CM000674.2:g.56343472C>A | GRCh38 |
| NC_000012.11:g.56737256C>A , CM000674.1:g.56737256C>A | GRCh37 |
| NC_000012.10:g.55023523C>A | NCBI36 |
| NG_046314.1:g.21782G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555488.2:n.2356G>T | ||
| ENST00000698178.1:n.3064G>T | ||
| ENST00000698179.1:n.3016G>T | ||
| ENST00000698180.1:c.*2228G>T | ENSP00000513597.1:n.*2228G>T | |
| ENST00000698181.1:n.3510G>T | ||
| ENST00000698182.1:n.3283G>T | ||
| ENST00000698183.1:n.3743G>T | ||
| ENST00000698184.1:n.3517G>T | ||
| ENST00000698185.1:n.3676G>T | ||
| ENST00000698186.1:c.2341G>T | ENSP00000513598.1:p.Gly781Cys | |
| ENST00000698187.1:n.2788G>T | ||
| ENST00000698188.1:n.3140G>T | ||
| ENST00000698189.1:n.4550G>T | ||
| ENST00000698190.1:n.3131G>T | ||
| ENST00000698191.1:n.3064G>T | ||
| ENST00000698192.1:c.2473G>T | ENSP00000513599.1:p.Gly825Cys | |
| ENST00000698193.1:c.*345G>T | ENSP00000513600.1:n.*345G>T | |
| ENST00000314128.9:c.2473G>T MANE Select | ENSP00000315768.4:p.Gly825Cys | |
| ENST00000556140.6:n.3245G>T | ||
| ENST00000650805.1:c.*1907G>T | ENSP00000498710.1:n.*1907G>T | |
| ENST00000651078.1:n.3126G>T | ||
| ENST00000651301.1:c.*2147G>T | ENSP00000498470.1:n.*2147G>T | |
| ENST00000651339.1:n.1208G>T | ||
| ENST00000651805.1:n.2862G>T | ||
| ENST00000651915.1:c.2374G>T | ENSP00000498876.1:p.Gly792Cys | |
| ENST00000651934.1:n.2913G>T | ||
| ENST00000651967.1:n.2588G>T | ||
| ENST00000652091.1:n.2991G>T | ||
| ENST00000652398.1:c.*2039G>T | ENSP00000499022.1:n.*2039G>T | |
| ENST00000652624.1:c.*1599G>T | ENSP00000499108.1:n.*1599G>T | |
| ENST00000652741.1:c.*2228G>T | ENSP00000498704.1:n.*2228G>T | |
| ENST00000314128.8:c.2473G>T | ENSP00000315768.4:p.Gly825Cys | |
| ENST00000556539.5:n.1403G>T | ||
| ENST00000557235.5:c.2461G>T | ENSP00000450751.1:p.Gly821Cys | |
| NM_005419.3:c.2473G>T | NP_005410.1:p.Gly825Cys | |
| NM_198332.1:c.2461G>T | NP_938146.1:p.Gly821Cys | |
| XM_011538697.1:c.2497G>T | XP_011536999.1:p.Gly833Cys | |
| XM_011538698.1:c.2485G>T | XP_011537000.1:p.Gly829Cys | |
| XM_011538700.1:c.1765G>T | XP_011537002.1:p.Gly589Cys | |
| XM_011538701.1:c.1528G>T | XP_011537003.1:p.Gly510Cys | |
| XM_011538697.2:c.2497G>T | XP_011536999.1:p.Gly833Cys | |
| XM_011538698.3:c.2485G>T | XP_011537000.1:p.Gly829Cys | |
| XM_011538700.2:c.1765G>T | XP_011537002.1:p.Gly589Cys | |
| XM_017019904.2:c.1741G>T | XP_016875393.1:p.Gly581Cys | |
| XR_001748856.1:n.2396G>T | ||
| XR_001748857.1:n.2477G>T | ||
| XR_001748858.2:n.2354G>T | ||
| XR_002957375.1:n.2768G>T | ||
| XR_002957376.1:n.2726G>T | ||
| NM_005419.4:c.2473G>T MANE Select | NP_005410.1:p.Gly825Cys | |
| NM_198332.2:c.2461G>T | NP_938146.1:p.Gly821Cys | |
| NM_001385110.1:c.2440G>T | NP_001372039.1:p.Gly814Cys | |
| NM_001385111.1:c.2374G>T | NP_001372040.1:p.Gly792Cys | |
| NM_001385113.1:c.*42G>T | NP_001372042.1:n.*42G>T | |
| NM_001385114.1:c.2452G>T | NP_001372043.1:p.Gly818Cys | |
| NM_001385115.1:c.2431G>T | NP_001372044.1:p.Gly811Cys |