Linked Data
ClinVar Variation Id:
259149
dbSNP Id:
rs11568373
ExAC:
2:169801403 T / C
gnomAD v2:
2-169801403-T-C
gnomAD v3:
2-168944893-T-C
gnomAD v4:
2-168944893-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168944893T>C , CM000664.2:g.168944893T>C | GRCh38 |
| NC_000002.11:g.169801403T>C , CM000664.1:g.169801403T>C | GRCh37 |
| NC_000002.10:g.169509649T>C | NCBI36 |
| NG_007374.1:g.91431A>G | |
| NG_007374.2:g.91504A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649448.1:c.729A>G | ENSP00000497165.1:p.Ala243= | |
| ENST00000650372.1:c.2412A>G MANE Select | ENSP00000497931.1:p.Ala804= | |
| ENST00000263817.6:c.2412A>G | ENSP00000263817.6:p.Ala804= | |
| ENST00000439188.1:c.1101A>G | ENSP00000416058.1:n.1101A>G | |
| NM_003742.2:c.2412A>G | NP_003733.2:p.Ala804= | |
| XM_006712817.2:c.2454A>G | XP_006712880.1:p.Ala818= | |
| XM_011512077.1:c.2514A>G | XP_011510379.1:p.Ala838= | |
| XM_011512078.1:c.2514A>G | XP_011510380.1:p.Ala838= | |
| XM_011512079.1:c.2514A>G | XP_011510381.1:p.Ala838= | |
| XM_011512080.1:c.2514A>G | XP_011510382.1:p.Ala838= | |
| XM_011512081.1:c.738A>G | XP_011510383.1:p.Ala246= | |
| NM_003742.4:c.2412A>G MANE Select | NP_003733.2:p.Ala804= | |
| XM_006712817.3:c.2454A>G | XP_006712880.1:p.Ala818= | |
| XM_011512077.2:c.2514A>G | XP_011510379.1:p.Ala838= | |
| XM_011512078.2:c.2514A>G | XP_011510380.1:p.Ala838= | |
| XM_011512080.2:c.2514A>G | XP_011510382.1:p.Ala838= | |
| XM_011512081.2:c.738A>G | XP_011510383.1:p.Ala246= | |
| XM_017005165.1:c.2514A>G | XP_016860654.1:p.Ala838= | |
| XM_017005166.1:c.1743A>G | XP_016860655.1:p.Ala581= | |
| XM_017005167.1:c.1197A>G | XP_016860656.1:p.Ala399= |