Linked Data
ClinVar Variation Id:
55938
ClinVar RCV Id:
RCV000049347
dbSNP Id:
rs386833419
PubMed:
PMID:7881426
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177440362A>T , CM000666.2:g.177440362A>T | GRCh38 |
| NC_000004.11:g.178361516A>T , CM000666.1:g.178361516A>T | GRCh37 |
| NC_000004.10:g.178598510A>T | NCBI36 |
| NG_011845.2:g.7142T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.192T>A MANE Select | ENSP00000264595.2:p.Cys64Ter | |
| ENST00000264595.6:c.192T>A | ENSP00000264595.2:p.Cys64Ter | |
| ENST00000506853.5:n.226T>A | ||
| ENST00000510955.5:n.226T>A | ||
| ENST00000511231.1:n.226T>A | ||
| NM_000027.3:c.192T>A | NP_000018.2:p.Cys64Ter | |
| NM_001171988.1:c.192T>A | NP_001165459.1:p.Cys64Ter | |
| NR_033655.1:n.320T>A | ||
| XM_006714123.2:c.192T>A | XP_006714186.1:p.Cys64Ter | |
| XR_001741155.2:n.286T>A | ||
| NM_000027.4:c.192T>A MANE Select | NP_000018.2:p.Cys64Ter | |
| NM_001171988.2:c.192T>A | NP_001165459.1:p.Cys64Ter | |
| NR_033655.2:n.254T>A |