Linked Data
ClinVar Variation Id:
257558
dbSNP Id:
rs5943053
ExAC:
X:109931856 T / C
gnomAD v2:
X-109931856-T-C
gnomAD v3:
X-110688628-T-C
gnomAD v4:
X-110688628-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.110688628T>C , CM000685.2:g.110688628T>C | GRCh38 |
| NC_000023.10:g.109931856T>C , CM000685.1:g.109931856T>C | GRCh37 |
| NC_000023.9:g.109818512T>C | NCBI36 |
| NG_012816.1:g.112431A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372042.6:c.954A>G MANE Select | ENSP00000361112.1:p.Lys318= | |
| ENST00000372042.5:c.954A>G | ENSP00000361112.1:p.Lys318= | |
| ENST00000372045.5:c.933A>G | ENSP00000361115.1:p.Lys311= | |
| ENST00000394797.8:c.951A>G | ENSP00000378276.4:p.Lys317= | |
| ENST00000444321.2:c.951A>G | ENSP00000399739.2:p.Lys317= | |
| ENST00000482160.5:c.714A>G | ENSP00000418443.1:p.Lys238= | |
| NM_001143981.1:c.954A>G | NP_001137453.1:p.Lys318= | |
| NM_001143982.1:c.951A>G | NP_001137454.1:p.Lys317= | |
| NM_001143983.2:c.714A>G | NP_001137455.2:p.Lys238= | |
| NM_145234.3:c.951A>G | NP_660277.2:p.Lys317= | |
| XM_005262221.1:c.954A>G | XP_005262278.1:p.Lys318= | |
| XM_005262222.3:c.951A>G | XP_005262279.1:p.Lys317= | |
| XM_005262223.1:c.954A>G | XP_005262280.1:p.Lys318= | |
| XM_005262224.1:c.951A>G | XP_005262281.1:p.Lys317= | |
| XM_017029959.1:c.954A>G | XP_016885448.1:p.Lys318= | |
| NM_001367204.1:c.954A>G | NP_001354133.1:p.Lys318= | |
| NM_001367205.1:c.954A>G | NP_001354134.1:p.Lys318= | |
| NM_001367206.1:c.954A>G | NP_001354135.1:p.Lys318= | |
| NM_001367207.1:c.951A>G | NP_001354136.1:p.Lys317= | |
| NM_001367208.1:c.954A>G | NP_001354137.1:p.Lys318= | |
| NM_001367209.1:c.954A>G | NP_001354138.1:p.Lys318= | |
| NR_159734.1:n.1217A>G | ||
| NM_001143981.2:c.954A>G MANE Select | NP_001137453.1:p.Lys318= | |
| NM_001143982.2:c.951A>G | NP_001137454.1:p.Lys317= | |
| NM_001143983.3:c.714A>G | NP_001137455.2:p.Lys238= | |
| NM_145234.4:c.951A>G | NP_660277.2:p.Lys317= |