Linked Data
ClinVar Variation Id:
10351
ClinVar RCV Id:
RCV000011064
dbSNP Id:
rs137852475
PubMed:
PMID:12406074
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154992945A>C , CM000685.2:g.154992945A>C | GRCh38 |
| NC_000023.10:g.154221220A>C , CM000685.1:g.154221220A>C | GRCh37 |
| NC_000023.9:g.153874414A>C | NCBI36 |
| NG_011403.1:g.34779T>G | |
| NG_011403.2:g.34779T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.592T>G MANE Select | ENSP00000353393.4:p.Cys198Gly | |
| ENST00000647125.1:c.*378T>G | ENSP00000496062.1:n.*378T>G | |
| ENST00000360256.8:c.592T>G | ENSP00000353393.4:p.Cys198Gly | |
| ENST00000423959.5:c.487T>G | ENSP00000409446.1:p.Cys163Gly | |
| NM_000132.3:c.592T>G | NP_000123.1:p.Cys198Gly | |
| XM_011531126.1:c.487T>G | XP_011529428.1:p.Cys163Gly | |
| NM_000132.4:c.592T>G MANE Select | NP_000123.1:p.Cys198Gly |