Linked Data
ClinVar Variation Id:
4319
ClinVar RCV Id:
RCV000004563
dbSNP Id:
rs121908306
PubMed:
PMID:2269438
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155236328A>C , CM000663.2:g.155236328A>C | GRCh38 |
| NC_000001.10:g.155206119A>C , CM000663.1:g.155206119A>C | GRCh37 |
| NC_000001.9:g.153472743A>C | NCBI36 |
| NG_009783.1:g.13370T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368373.8:c.1141T>G MANE Select | ENSP00000357357.3:p.Cys381Gly | |
| ENST00000327247.9:c.1141T>G | ENSP00000314508.5:p.Cys381Gly | |
| ENST00000368373.7:c.1141T>G | ENSP00000357357.3:p.Cys381Gly | |
| ENST00000427500.7:c.994T>G | ENSP00000402577.2:p.Cys332Gly | |
| ENST00000428024.3:c.880T>G | ENSP00000397986.2:p.Cys294Gly | |
| ENST00000478472.1:n.132T>G | ||
| ENST00000484489.5:n.340-40T>G | ||
| ENST00000491081.5:n.746T>G | ||
| NM_000157.3:c.1141T>G | NP_000148.2:p.Cys381Gly | |
| NM_001005741.2:c.1141T>G | NP_001005741.1:p.Cys381Gly | |
| NM_001005742.2:c.1141T>G | NP_001005742.1:p.Cys381Gly | |
| NM_001171811.1:c.880T>G | NP_001165282.1:p.Cys294Gly | |
| NM_001171812.1:c.994T>G | NP_001165283.1:p.Cys332Gly | |
| XM_006711270.1:c.1141T>G | XP_006711333.1:p.Cys381Gly | |
| XM_011509407.1:c.1141T>G | XP_011507709.1:p.Cys381Gly | |
| NM_000157.4:c.1141T>G MANE Select | NP_000148.2:p.Cys381Gly | |
| NM_001005741.3:c.1141T>G | NP_001005741.1:p.Cys381Gly | |
| NM_001005742.3:c.1141T>G | NP_001005742.1:p.Cys381Gly | |
| NM_001171811.2:c.880T>G | NP_001165282.1:p.Cys294Gly | |
| NM_001171812.2:c.994T>G | NP_001165283.1:p.Cys332Gly |