Linked Data
ClinVar Variation Id:
516989
dbSNP Id:
rs575609182
ExAC:
1:234519450 T / A
gnomAD v2:
1-234519450-T-A
gnomAD v3:
1-234383704-T-A
gnomAD v4:
1-234383704-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.234383704T>A , CM000663.2:g.234383704T>A | GRCh38 |
| NC_000001.10:g.234519450T>A , CM000663.1:g.234519450T>A | GRCh37 |
| NC_000001.9:g.232586073T>A | NCBI36 |
| NG_034250.1:g.15268T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366615.10:c.373-19T>A MANE Select | ENSP00000355574.5:n.373-19T>A | |
| ENST00000366612.1:c.145-19T>A | ENSP00000355571.1:n.145-19T>A | |
| ENST00000366613.1:c.283-19T>A | ENSP00000355572.1:n.283-19T>A | |
| ENST00000366615.8:c.373-19T>A | ENSP00000355574.4:n.373-19T>A | |
| ENST00000619305.1:c.145-19T>A | ENSP00000479686.1:n.145-19T>A | |
| NM_001012985.2:c.283-19T>A | NP_001013003.1:n.283-19T>A | |
| NM_001206641.2:c.373-19T>A | NP_001193570.2:n.373-19T>A | |
| NM_001301733.1:c.145-19T>A | NP_001288662.1:n.145-19T>A | |
| NM_001206641.3:c.373-19T>A MANE Select | NP_001193570.2:n.373-19T>A |