Linked Data
ClinVar Variation Id:
97123
ClinVar RCV Id:
RCV000083352
dbSNP Id:
rs66677059
PubMed:
PMID:16786505
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367371T>G , CM000685.2:g.38367371T>G | GRCh38 |
| NC_000023.10:g.38226624T>G , CM000685.1:g.38226624T>G | GRCh37 |
| NC_000023.9:g.38111568T>G | NCBI36 |
| NG_008471.1:g.19889T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.158T>G MANE Select | ENSP00000039007.4:p.Ile53Ser | |
| ENST00000643344.1:c.158T>G | ENSP00000496606.1:p.Ile53Ser | |
| ENST00000039007.4:c.158T>G | ENSP00000039007.4:p.Ile53Ser | |
| ENST00000465127.1:c.172-298750T>G | ENSP00000417050.1:n.172-298750T>G | |
| ENST00000488812.1:n.250T>G | ||
| NM_000531.5:c.158T>G | NP_000522.3:p.Ile53Ser | |
| XM_017029556.1:c.158T>G | XP_016885045.1:p.Ile53Ser | |
| NM_000531.6:c.158T>G MANE Select | NP_000522.3:p.Ile53Ser |