Linked Data
ClinVar Variation Id:
512472
ClinVar RCV Id:
RCV000612167
dbSNP Id:
rs371619971
ExAC:
14:50585237 T / C
gnomAD v2:
14-50585237-T-C
gnomAD v3:
14-50118519-T-C
gnomAD v4:
14-50118519-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50118519T>C , CM000676.2:g.50118519T>C | GRCh38 |
| NC_000014.8:g.50585237T>C , CM000676.1:g.50585237T>C | GRCh37 |
| NC_000014.7:g.49654987T>C | NCBI36 |
| NG_051073.1:g.118175A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216373.10:c.3824A>G MANE Select | ENSP00000216373.5:p.Tyr1275Cys | |
| ENST00000216373.9:c.3824A>G | ENSP00000216373.5:p.Tyr1275Cys | |
| ENST00000543680.5:c.3725A>G | ENSP00000445328.1:p.Tyr1242Cys | |
| NM_006939.2:c.3824A>G | NP_008870.2:p.Tyr1275Cys | |
| XM_005268021.1:c.3644A>G | XP_005268078.1:p.Tyr1215Cys | |
| XM_011537103.1:c.3785A>G | XP_011535405.1:p.Tyr1262Cys | |
| NM_006939.3:c.3824A>G | NP_008870.2:p.Tyr1275Cys | |
| NM_006939.4:c.3824A>G MANE Select | NP_008870.2:p.Tyr1275Cys |