Linked Data
ClinVar Variation Id:
97201
ClinVar RCV Id:
RCV000083438
dbSNP Id:
rs72556263
PubMed:
PMID:11117428
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38401325C>G , CM000685.2:g.38401325C>G | GRCh38 |
| NC_000023.10:g.38260578C>G , CM000685.1:g.38260578C>G | GRCh37 |
| NC_000023.9:g.38145522C>G | NCBI36 |
| NG_008471.1:g.53843C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.437C>G MANE Select | ENSP00000039007.4:p.Ser146Ter | |
| ENST00000643344.1:c.*187C>G | ENSP00000496606.1:n.*187C>G | |
| ENST00000039007.4:c.437C>G | ENSP00000039007.4:p.Ser146Ter | |
| ENST00000465127.1:c.172-264796C>G | ENSP00000417050.1:n.172-264796C>G | |
| ENST00000488812.1:n.474C>G | ||
| NM_000531.5:c.437C>G | NP_000522.3:p.Ser146Ter | |
| XM_017029556.1:c.437C>G | XP_016885045.1:p.Ser146Ter | |
| NM_000531.6:c.437C>G MANE Select | NP_000522.3:p.Ser146Ter |