Linked Data
ClinVar Variation Id:
1216131
ClinVar RCV Id:
RCV001593794
dbSNP Id:
rs147075186
gnomAD v2:
15-38545055-G-A
gnomAD v3:
15-38252854-G-A
gnomAD v4:
15-38252854-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38252854G>A , CM000677.2:g.38252854G>A | GRCh38 |
| NC_000015.9:g.38545055G>A , CM000677.1:g.38545055G>A | GRCh37 |
| NC_000015.8:g.36332347G>A | NCBI36 |
| NG_008980.1:g.5004G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.-332G>A MANE Select | ENSP00000299084.4:n.-332G>A | |
| ENST00000299084.8:c.-332G>A | ENSP00000299084.4:n.-332G>A | |
| ENST00000561205.1:n.7G>A | ||
| NM_152594.2:c.-332G>A | NP_689807.1:n.-332G>A | |
| XM_005254202.2:c.-332G>A | XP_005254259.1:n.-332G>A | |
| XM_005254203.3:c.-379G>A | XP_005254260.1:n.-379G>A | |
| XM_005254202.3:c.-332G>A | XP_005254259.1:n.-332G>A | |
| XR_001751484.1:n.87+713C>T | ||
| NM_152594.3:c.-332G>A MANE Select | NP_689807.1:n.-332G>A |