Linked Data
ClinVar Variation Id:
744266
ClinVar RCV Id:
RCV000920704
dbSNP Id:
rs200054483
ExAC:
8:94935280 G / A
gnomAD v2:
8-94935280-G-A
gnomAD v3:
8-93923052-G-A
gnomAD v4:
8-93923052-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93923052G>A , CM000670.2:g.93923052G>A | GRCh38 |
| NC_000008.10:g.94935280G>A , CM000670.1:g.94935280G>A | GRCh37 |
| NC_000008.9:g.95004456G>A | NCBI36 |
| NG_012233.1:g.11119G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297598.5:c.993G>A MANE Select | ENSP00000297598.4:p.Lys331= | |
| ENST00000297598.4:c.993G>A | ENSP00000297598.4:p.Lys331= | |
| ENST00000396200.3:c.1068G>A | ENSP00000379503.3:p.Lys356= | |
| ENST00000517764.1:c.993G>A | ENSP00000430380.1:p.Lys331= | |
| ENST00000520728.5:c.993G>A | ENSP00000428317.1:p.Lys331= | |
| NM_001161779.1:c.1068G>A | NP_001155251.1:p.Lys356= | |
| NM_001161780.1:c.1068G>A | NP_001155252.1:p.Lys356= | |
| NM_001161781.1:c.993G>A | NP_001155253.1:p.Lys331= | |
| NM_018444.3:c.993G>A | NP_060914.2:p.Lys331= | |
| XM_011517135.1:c.1047G>A | XP_011515437.1:p.Lys349= | |
| XM_011517136.1:c.993G>A | XP_011515438.1:p.Lys331= | |
| XM_011517137.1:c.993G>A | XP_011515439.1:p.Lys331= | |
| XM_011517135.2:c.1047G>A | XP_011515437.1:p.Lys349= | |
| XM_011517136.2:c.993G>A | XP_011515438.1:p.Lys331= | |
| XM_017013588.1:c.1155G>A | XP_016869077.1:p.Lys385= | |
| NM_018444.4:c.993G>A MANE Select | NP_060914.2:p.Lys331= | |
| NM_001161780.2:c.1068G>A | NP_001155252.1:p.Lys356= | |
| NM_001161781.2:c.993G>A | NP_001155253.1:p.Lys331= | |
| NM_001161779.2:c.1068G>A | NP_001155251.1:p.Lys356= |