Linked Data
ClinVar Variation Id:
10201
ClinVar RCV Id:
RCV000010914
dbSNP Id:
rs137852409
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154969354C>T , CM000685.2:g.154969354C>T | GRCh38 |
| NC_000023.10:g.154197629C>T , CM000685.1:g.154197629C>T | GRCh37 |
| NC_000023.9:g.153850823C>T | NCBI36 |
| NG_011403.1:g.58370G>A | |
| NG_011403.2:g.58370G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.986G>A MANE Select | ENSP00000353393.4:p.Cys329Tyr | |
| ENST00000647125.1:c.*862G>A | ENSP00000496062.1:n.*862G>A | |
| ENST00000360256.8:c.986G>A | ENSP00000353393.4:p.Cys329Tyr | |
| NM_000132.3:c.986G>A | NP_000123.1:p.Cys329Tyr | |
| XM_011531126.1:c.881G>A | XP_011529428.1:p.Cys294Tyr | |
| NM_000132.4:c.986G>A MANE Select | NP_000123.1:p.Cys329Tyr |