Linked Data
ClinVar Variation Id:
448864
dbSNP Id:
rs149840356
ExAC:
9:79931219 A / G
gnomAD v2:
9-79931219-A-G
gnomAD v3:
9-77316303-A-G
gnomAD v4:
9-77316303-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77316303A>G , CM000671.2:g.77316303A>G | GRCh38 |
| NC_000009.11:g.79931219A>G , CM000671.1:g.79931219A>G | GRCh37 |
| NC_000009.10:g.79121039A>G | NCBI36 |
| NG_008931.1:g.143859A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360280.8:c.4760A>G MANE Select | ENSP00000353422.3:p.Tyr1587Cys | |
| ENST00000643348.1:c.4760A>G | ENSP00000493592.1:p.Tyr1587Cys | |
| ENST00000645632.1:c.4760A>G | ENSP00000496361.1:p.Tyr1587Cys | |
| ENST00000357409.9:c.4760A>G | ENSP00000349985.5:p.Tyr1587Cys | |
| ENST00000360280.7:c.4760A>G | ENSP00000353422.3:p.Tyr1587Cys | |
| ENST00000376634.8:c.4760A>G | ENSP00000365821.4:p.Tyr1587Cys | |
| ENST00000376636.7:c.4643A>G | ENSP00000365823.3:p.Tyr1548Cys | |
| ENST00000423463.6:n.2050A>G | ||
| ENST00000493341.1:c.1349A>G | ENSP00000437478.1:n.1349A>G | |
| NM_001018037.1:c.4643A>G | NP_001018047.1:p.Tyr1548Cys | |
| NM_001018038.2:c.4760A>G | NP_001018048.1:p.Tyr1587Cys | |
| NM_015186.3:c.4760A>G | NP_056001.1:p.Tyr1587Cys | |
| NM_033305.2:c.4760A>G | NP_150648.2:p.Tyr1587Cys | |
| XR_242579.2:n.5112A>G | ||
| XR_242580.3:n.5112A>G | ||
| XR_929740.1:n.5112A>G | ||
| XR_001746259.1:n.5112A>G | ||
| XR_001746260.1:n.5112A>G | ||
| NM_033305.3:c.4760A>G MANE Select | NP_150648.2:p.Tyr1587Cys | |
| NM_001018037.2:c.4643A>G | NP_001018047.1:p.Tyr1548Cys | |
| NM_001018038.3:c.4760A>G | NP_001018048.1:p.Tyr1587Cys | |
| NM_015186.4:c.4760A>G | NP_056001.1:p.Tyr1587Cys |