Linked Data
ClinVar Variation Id:
747841
ClinVar RCV Id:
RCV000924588
dbSNP Id:
rs373420723
ExAC:
12:46246487 C / T
gnomAD v2:
12-46246487-C-T
gnomAD v3:
12-45852704-C-T
gnomAD v4:
12-45852704-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.45852704C>T , CM000674.2:g.45852704C>T | GRCh38 |
| NC_000012.11:g.46246487C>T , CM000674.1:g.46246487C>T | GRCh37 |
| NC_000012.10:g.44532754C>T | NCBI36 |
| NG_052800.1:g.128040C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422737.7:c.4581C>T | ENSP00000415650.3:p.Val1527= | |
| ENST00000457135.2:c.790C>T | ||
| ENST00000334344.11:c.4581C>T MANE Select | ENSP00000335044.6:p.Val1527= | |
| ENST00000422737.6:c.4502C>T | ||
| ENST00000334344.10:c.4581C>T | ENSP00000335044.6:p.Val1527= | |
| ENST00000422737.5:c.4134C>T | ENSP00000415650.1:p.Val1378= | |
| ENST00000444670.5:c.3411C>T | ENSP00000397307.1:p.Val1137= | |
| ENST00000457135.1:c.405C>T | ENSP00000388357.1:p.Val135= | |
| ENST00000479608.5:n.3872C>T | ||
| NM_152641.2:c.4581C>T | NP_689854.2:p.Val1527= | |
| XM_006719272.2:c.4581C>T | XP_006719335.1:p.Val1527= | |
| XM_011538025.1:c.2949C>T | XP_011536327.1:p.Val983= | |
| XR_944505.1:n.4729C>T | ||
| NM_001347839.1:c.4581C>T | NP_001334768.1:p.Val1527= | |
| NM_152641.3:c.4581C>T | NP_689854.2:p.Val1527= | |
| XM_006719272.4:c.4581C>T | XP_006719335.1:p.Val1527= | |
| XR_944505.3:n.4712C>T | ||
| NM_152641.4:c.4581C>T MANE Select | NP_689854.2:p.Val1527= | |
| NM_001347839.2:c.4581C>T | NP_001334768.1:p.Val1527= |