Linked Data
ClinVar Variation Id:
97309
ClinVar RCV Id:
RCV000083555
dbSNP Id:
rs67330615
PubMed:
PMID:16786505
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408915G>A , CM000685.2:g.38408915G>A | GRCh38 |
| NC_000023.10:g.38268168G>A , CM000685.1:g.38268168G>A | GRCh37 |
| NC_000023.9:g.38153112G>A | NCBI36 |
| NG_008471.1:g.61433G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.757G>A MANE Select | ENSP00000039007.4:p.Ala253Thr | |
| ENST00000643344.1:c.*507G>A | ENSP00000496606.1:n.*507G>A | |
| ENST00000039007.4:c.757G>A | ENSP00000039007.4:p.Ala253Thr | |
| ENST00000465127.1:c.172-257206G>A | ENSP00000417050.1:n.172-257206G>A | |
| NM_000531.5:c.757G>A | NP_000522.3:p.Ala253Thr | |
| XM_017029556.1:c.757G>A | XP_016885045.1:p.Ala253Thr | |
| NM_000531.6:c.757G>A MANE Select | NP_000522.3:p.Ala253Thr |