Linked Data
ClinVar Variation Id:
321814
dbSNP Id:
rs371273328
ExAC:
17:14005478 G / A
gnomAD v2:
17-14005478-G-A
gnomAD v3:
17-14102161-G-A
gnomAD v4:
17-14102161-G-A
COSMIC:
COSM975650
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14102161G>A , CM000679.2:g.14102161G>A | GRCh38 |
| NC_000017.10:g.14005478G>A , CM000679.1:g.14005478G>A | GRCh37 |
| NC_000017.9:g.13946203G>A | NCBI36 |
| NG_008034.1:g.37760G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.543G>A MANE Select | ENSP00000261643.3:p.Pro181= | |
| ENST00000664217.1:c.543G>A | ENSP00000499396.1:p.Pro181= | |
| ENST00000670279.1:c.543G>A | ENSP00000499450.1:p.Pro181= | |
| ENST00000261643.7:c.543G>A | ENSP00000261643.3:p.Pro181= | |
| ENST00000580561.1:c.*32G>A | ENSP00000462190.1:n.*32G>A | |
| ENST00000581931.5:c.499+25105G>A | ENSP00000462512.1:n.499+25105G>A | |
| NM_001303.3:c.543G>A | NP_001294.2:p.Pro181= | |
| XM_005256458.1:c.543G>A | XP_005256515.1:p.Pro181= | |
| XM_011523657.1:c.543G>A | XP_011521959.1:p.Pro181= | |
| XM_011523658.1:c.48+25105G>A | XP_011521960.1:n.48+25105G>A | |
| XR_933974.1:n.646G>A | ||
| XR_933975.1:n.646G>A | ||
| NM_001303.4:c.543G>A MANE Select | NP_001294.2:p.Pro181= |