Linked Data
ClinVar Variation Id:
97373
ClinVar RCV Id:
RCV000083622
dbSNP Id:
rs72558475
PubMed:
PMID:11793468
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38411956C>A , CM000685.2:g.38411956C>A | GRCh38 |
| NC_000023.10:g.38271209C>A , CM000685.1:g.38271209C>A | GRCh37 |
| NC_000023.9:g.38156153C>A | NCBI36 |
| NG_008471.1:g.64474C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.962C>A MANE Select | ENSP00000039007.4:p.Ser321Ter | |
| ENST00000643344.1:c.*712C>A | ENSP00000496606.1:n.*712C>A | |
| ENST00000039007.4:c.962C>A | ENSP00000039007.4:p.Ser321Ter | |
| ENST00000465127.1:c.172-254165C>A | ENSP00000417050.1:n.172-254165C>A | |
| NM_000531.5:c.962C>A | NP_000522.3:p.Ser321Ter | |
| NM_000531.6:c.962C>A MANE Select | NP_000522.3:p.Ser321Ter |