Linked Data
ClinVar Variation Id:
97110
ClinVar RCV Id:
RCV000083337
dbSNP Id:
rs72554311
PubMed:
PMID:9686344
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367346C>G , CM000685.2:g.38367346C>G | GRCh38 |
| NC_000023.10:g.38226599C>G , CM000685.1:g.38226599C>G | GRCh37 |
| NC_000023.9:g.38111543C>G | NCBI36 |
| NG_008471.1:g.19864C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.133C>G MANE Select | ENSP00000039007.4:p.Leu45Val | |
| ENST00000643344.1:c.133C>G | ENSP00000496606.1:p.Leu45Val | |
| ENST00000039007.4:c.133C>G | ENSP00000039007.4:p.Leu45Val | |
| ENST00000465127.1:c.172-298775C>G | ENSP00000417050.1:n.172-298775C>G | |
| ENST00000488812.1:n.225C>G | ||
| NM_000531.5:c.133C>G | NP_000522.3:p.Leu45Val | |
| XM_017029556.1:c.133C>G | XP_016885045.1:p.Leu45Val | |
| NM_000531.6:c.133C>G MANE Select | NP_000522.3:p.Leu45Val |