Linked Data
ClinVar Variation Id:
97002
ClinVar RCV Id:
RCV003444057
dbSNP Id:
rs483352923
PubMed:
PMID:24388663
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138441386T>A , CM000667.2:g.138441386T>A | GRCh38 |
| NC_000005.9:g.137777075T>A , CM000667.1:g.137777075T>A | GRCh37 |
| NC_000005.8:g.137804974T>A | NCBI36 |
| NG_033967.1:g.7386T>A | |
| NG_033967.2:g.7386T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378339.7:c.107T>A MANE Select | ENSP00000367590.2:p.Val36Glu | |
| ENST00000254901.9:c.107T>A | ENSP00000254901.5:p.Val36Glu | |
| ENST00000378339.6:c.107T>A | ENSP00000367590.2:p.Val36Glu | |
| ENST00000464751.6:n.206T>A | ||
| ENST00000503379.5:n.205T>A | ||
| ENST00000506158.5:c.-8T>A | ENSP00000422530.1:n.-8T>A | |
| ENST00000507511.5:c.105+298T>A | ENSP00000424441.1:n.105+298T>A | |
| ENST00000510467.5:n.148T>A | ||
| ENST00000512126.5:c.220T>A | ||
| ENST00000613650.1:c.-8T>A | ENSP00000479268.1:n.-8T>A | |
| NM_001271803.1:c.107T>A | NP_001258732.1:p.Val36Glu | |
| NM_016606.3:c.107T>A | NP_057690.2:p.Val36Glu | |
| NR_073448.1:n.390T>A | ||
| NR_073449.1:n.390T>A | ||
| NM_001271803.2:c.107T>A MANE Select | NP_001258732.1:p.Val36Glu | |
| NM_016606.4:c.107T>A | NP_057690.2:p.Val36Glu | |
| NR_073448.2:n.334T>A | ||
| NR_073449.2:n.334T>A |