Linked Data
ClinVar Variation Id:
321809
dbSNP Id:
rs201257809
ExAC:
17:13972899 G / A
gnomAD v2:
17-13972899-G-A
gnomAD v3:
17-14069582-G-A
gnomAD v4:
17-14069582-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14069582G>A , CM000679.2:g.14069582G>A | GRCh38 |
| NC_000017.10:g.13972899G>A , CM000679.1:g.13972899G>A | GRCh37 |
| NC_000017.9:g.13913624G>A | NCBI36 |
| NG_008034.1:g.5181G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.-24G>A MANE Select | ENSP00000261643.3:n.-24G>A | |
| ENST00000664217.1:c.-24G>A | ENSP00000499396.1:n.-24G>A | |
| ENST00000670279.1:c.-24G>A | ENSP00000499450.1:n.-24G>A | |
| ENST00000261643.7:c.-24G>A | ENSP00000261643.3:n.-24G>A | |
| ENST00000429152.6:c.-24G>A | ENSP00000397750.2:n.-24G>A | |
| NM_001303.3:c.-24G>A | NP_001294.2:n.-24G>A | |
| XM_005256458.1:c.-24G>A | XP_005256515.1:n.-24G>A | |
| XM_011523657.1:c.-24G>A | XP_011521959.1:n.-24G>A | |
| XM_011523658.1:c.-475G>A | XP_011521960.1:n.-475G>A | |
| XR_933974.1:n.80G>A | ||
| XR_933975.1:n.80G>A | ||
| NM_001303.4:c.-24G>A MANE Select | NP_001294.2:n.-24G>A |