Linked Data
ClinVar Variation Id:
1978948
ClinVar RCV Id:
RCV002775184
dbSNP Id:
rs370143029
ExAC:
8:94935254 G / A
gnomAD v2:
8-94935254-G-A
gnomAD v3:
8-93923026-G-A
gnomAD v4:
8-93923026-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93923026G>A , CM000670.2:g.93923026G>A | GRCh38 |
| NC_000008.10:g.94935254G>A , CM000670.1:g.94935254G>A | GRCh37 |
| NC_000008.9:g.95004430G>A | NCBI36 |
| NG_012233.1:g.11093G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297598.5:c.967G>A MANE Select | ENSP00000297598.4:p.Glu323Lys | |
| ENST00000297598.4:c.967G>A | ENSP00000297598.4:p.Glu323Lys | |
| ENST00000396200.3:c.1042G>A | ENSP00000379503.3:p.Glu348Lys | |
| ENST00000517764.1:c.967G>A | ENSP00000430380.1:p.Glu323Lys | |
| ENST00000520728.5:c.967G>A | ENSP00000428317.1:p.Glu323Lys | |
| NM_001161779.1:c.1042G>A | NP_001155251.1:p.Glu348Lys | |
| NM_001161780.1:c.1042G>A | NP_001155252.1:p.Glu348Lys | |
| NM_001161781.1:c.967G>A | NP_001155253.1:p.Glu323Lys | |
| NM_018444.3:c.967G>A | NP_060914.2:p.Glu323Lys | |
| XM_011517135.1:c.1021G>A | XP_011515437.1:p.Glu341Lys | |
| XM_011517136.1:c.967G>A | XP_011515438.1:p.Glu323Lys | |
| XM_011517137.1:c.967G>A | XP_011515439.1:p.Glu323Lys | |
| XM_011517135.2:c.1021G>A | XP_011515437.1:p.Glu341Lys | |
| XM_011517136.2:c.967G>A | XP_011515438.1:p.Glu323Lys | |
| XM_017013588.1:c.1129G>A | XP_016869077.1:p.Glu377Lys | |
| NM_018444.4:c.967G>A MANE Select | NP_060914.2:p.Glu323Lys | |
| NM_001161780.2:c.1042G>A | NP_001155252.1:p.Glu348Lys | |
| NM_001161781.2:c.967G>A | NP_001155253.1:p.Glu323Lys | |
| NM_001161779.2:c.1042G>A | NP_001155251.1:p.Glu348Lys |