Linked Data
ClinVar Variation Id:
237741
dbSNP Id:
rs878853970
gnomAD v3:
2-21028484-G-A
gnomAD v4:
2-21028484-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21028484G>A , CM000664.2:g.21028484G>A | GRCh38 |
| NC_000002.11:g.21251356G>A , CM000664.1:g.21251356G>A | GRCh37 |
| NC_000002.10:g.21104861G>A | NCBI36 |
| NG_011793.1:g.20590C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*978C>T | ENSP00000501110.2:n.*978C>T | |
| ENST00000673882.2:c.*978C>T | ENSP00000501253.2:n.*978C>T | |
| ENST00000673739.1:c.1386C>T | ENSP00000501110.1:n.1386C>T | |
| ENST00000673882.1:c.1386C>T | ENSP00000501253.1:n.1386C>T | |
| ENST00000233242.5:c.1672C>T MANE Select | ENSP00000233242.1:p.Arg558Ter | |
| ENST00000399256.4:c.1672C>T | ENSP00000382200.4:p.Arg558Ter | |
| ENST00000616098.4:c.1672C>T | ENSP00000477990.1:p.Arg558Ter | |
| NM_000384.2:c.1672C>T | NP_000375.2:p.Arg558Ter | |
| XM_011532809.1:c.1672C>T | XP_011531111.1:p.Arg558Ter | |
| NM_000384.3:c.1672C>T MANE Select | NP_000375.3:p.Arg558Ter |