Linked Data
ClinVar Variation Id:
433326
ClinVar RCV Id:
RCV000499172
dbSNP Id:
rs72653747
gnomAD v4:
16-16159500-A-C
PubMed:
PMID:18253096
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16159500A>C , CM000678.2:g.16159500A>C | GRCh38 |
| NC_000016.9:g.16253357A>C , CM000678.1:g.16253357A>C | GRCh37 |
| NC_000016.8:g.16160858A>C | NCBI36 |
| NG_007558.2:g.68972T>G | |
| NG_007558.3:g.69118T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.3717T>G | ENSP00000483331.2:p.Tyr1239Ter | |
| ENST00000205557.12:c.3717T>G MANE Select | ENSP00000205557.7:p.Tyr1239Ter | |
| ENST00000640696.1:c.531T>G | ENSP00000492197.1:p.Tyr177Ter | |
| ENST00000205557.11:c.3717T>G | ENSP00000205557.7:p.Tyr1239Ter | |
| ENST00000456970.6:c.3342T>G | ENSP00000405002.2:n.3342T>G | |
| ENST00000622290.4:c.*926T>G | ENSP00000483331.1:n.*926T>G | |
| NM_001171.5:c.3717T>G | NP_001162.4:p.Tyr1239Ter | |
| XM_011522479.1:c.3684T>G | XP_011520781.1:p.Tyr1228Ter | |
| XM_011522480.1:c.3375T>G | XP_011520782.1:p.Tyr1125Ter | |
| XM_011522481.1:c.3375T>G | XP_011520783.1:p.Tyr1125Ter | |
| XR_932836.1:n.3952T>G | ||
| XR_932837.1:n.3753T>G | ||
| XR_932838.1:n.3753T>G | ||
| XR_933134.1:n.539-281A>C | ||
| NM_001351800.1:c.3375T>G | NP_001338729.1:p.Tyr1125Ter | |
| NR_147784.1:n.3379T>G | ||
| XM_011522479.2:c.3684T>G | XP_011520781.1:p.Tyr1228Ter | |
| XM_011522481.3:c.3375T>G | XP_011520783.1:p.Tyr1125Ter | |
| XM_017023212.1:c.3549T>G | XP_016878701.1:p.Tyr1183Ter | |
| XM_024450261.1:c.3753T>G | XP_024306029.1:p.Tyr1251Ter | |
| XR_932836.2:n.3898T>G | ||
| XR_932837.3:n.3698T>G | ||
| XR_932838.3:n.3698T>G | ||
| NM_001171.6:c.3717T>G MANE Select | NP_001162.5:p.Tyr1239Ter |