Linked Data
ClinVar Variation Id:
10185
ClinVar RCV Id:
RCV000010898
dbSNP Id:
rs137852398
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154969543C>T , CM000685.2:g.154969543C>T | GRCh38 |
| NC_000023.10:g.154197818C>T , CM000685.1:g.154197818C>T | GRCh37 |
| NC_000023.9:g.153851012C>T | NCBI36 |
| NG_011403.1:g.58181G>A | |
| NG_011403.2:g.58181G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.797G>A MANE Select | ENSP00000353393.4:p.Gly266Glu | |
| ENST00000647125.1:c.*673G>A | ENSP00000496062.1:n.*673G>A | |
| ENST00000360256.8:c.797G>A | ENSP00000353393.4:p.Gly266Glu | |
| NM_000132.3:c.797G>A | NP_000123.1:p.Gly266Glu | |
| XM_011531126.1:c.692G>A | XP_011529428.1:p.Gly231Glu | |
| NM_000132.4:c.797G>A MANE Select | NP_000123.1:p.Gly266Glu |