Linked Data
ClinVar Variation Id:
10280
ClinVar RCV Id:
RCV000010993
dbSNP Id:
rs28933674
PubMed:
PMID:8307558
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154904871C>T , CM000685.2:g.154904871C>T | GRCh38 |
| NC_000023.10:g.154133146C>T , CM000685.1:g.154133146C>T | GRCh37 |
| NC_000023.9:g.153786340C>T | NCBI36 |
| NG_011403.1:g.122853G>A | |
| NG_011403.2:g.122853G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5526G>A MANE Select | ENSP00000353393.4:p.Met1842Ile | |
| ENST00000360256.8:c.5526G>A | ENSP00000353393.4:p.Met1842Ile | |
| NM_000132.3:c.5526G>A | NP_000123.1:p.Met1842Ile | |
| XM_011531126.1:c.5421G>A | XP_011529428.1:p.Met1807Ile | |
| NM_000132.4:c.5526G>A MANE Select | NP_000123.1:p.Met1842Ile |