Linked Data
ClinVar Variation Id:
97241
ClinVar RCV Id:
RCV000083481
dbSNP Id:
rs67367843
PubMed:
PMID:16786505
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38401430T>A , CM000685.2:g.38401430T>A | GRCh38 |
| NC_000023.10:g.38260683T>A , CM000685.1:g.38260683T>A | GRCh37 |
| NC_000023.9:g.38145627T>A | NCBI36 |
| NG_008471.1:g.53948T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.540+2T>A MANE Select | ENSP00000039007.4:n.540+2T>A | |
| ENST00000643344.1:c.*290+2T>A | ENSP00000496606.1:n.*290+2T>A | |
| ENST00000039007.4:c.540+2T>A | ENSP00000039007.4:n.540+2T>A | |
| ENST00000465127.1:c.172-264691T>A | ENSP00000417050.1:n.172-264691T>A | |
| ENST00000488812.1:n.577+2T>A | ||
| NM_000531.5:c.540+2T>A | NP_000522.3:n.540+2T>A | |
| XM_017029556.1:c.540+2T>A | XP_016885045.1:n.540+2T>A | |
| NM_000531.6:c.540+2T>A MANE Select | NP_000522.3:n.540+2T>A |