Linked Data
ClinVar Variation Id:
10062
ClinVar RCV Id:
RCV000010765
dbSNP Id:
rs137852496
PubMed:
PMID:2928313
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134493533T>A , CM000685.2:g.134493533T>A | GRCh38 |
| NC_000023.10:g.133627563T>A , CM000685.1:g.133627563T>A | GRCh37 |
| NC_000023.9:g.133455229T>A | NCBI36 |
| NG_012329.1:g.38389T>A | |
| NG_012329.2:g.38389T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298556.8:c.428T>A MANE Select | ENSP00000298556.7:p.Met143Lys | |
| ENST00000298556.7:c.428T>A | ENSP00000298556.7:p.Met143Lys | |
| ENST00000462974.5:n.586T>A | ||
| ENST00000475720.1:n.386T>A | ||
| NM_000194.2:c.428T>A | NP_000185.1:p.Met143Lys | |
| XM_011531328.1:c.446T>A | XP_011529630.1:p.Met149Lys | |
| NM_000194.3:c.428T>A MANE Select | NP_000185.1:p.Met143Lys |