Linked Data
dbSNP Id:
rs2431623
gnomAD v2:
10-12872880-A-G
gnomAD v3:
10-12830881-A-G
gnomAD v4:
10-12830881-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12830881A>G , CM000672.2:g.12830881A>G | GRCh38 |
| NC_000010.10:g.12872880A>G , CM000672.1:g.12872880A>G | GRCh37 |
| NC_000010.9:g.12912886A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619168.5:c.*1994A>G MANE Select | ENSP00000478874.1:n.*1994A>G | |
| ENST00000619168.4:c.*1994A>G | ENSP00000478874.1:n.*1994A>G | |
| NM_153498.3:c.*1994A>G | NP_705718.1:n.*1994A>G | |
| XM_006717481.2:c.*1994A>G | XP_006717544.1:n.*1994A>G | |
| XM_006717482.2:c.*2020A>G | XP_006717545.1:n.*2020A>G | |
| XM_006717483.2:c.*2088A>G | XP_006717546.1:n.*2088A>G | |
| XM_011519591.1:c.*1994A>G | XP_011517893.1:n.*1994A>G | |
| XM_011519592.1:c.*1994A>G | XP_011517894.1:n.*1994A>G | |
| XM_011519593.1:c.*1994A>G | XP_011517895.1:n.*1994A>G | |
| XM_011519594.1:c.*1994A>G | XP_011517896.1:n.*1994A>G | |
| XM_011519595.1:c.*1994A>G | XP_011517897.1:n.*1994A>G | |
| XM_011519596.1:c.*1994A>G | XP_011517898.1:n.*1994A>G | |
| XM_006717482.3:c.*2020A>G | XP_006717545.1:n.*2020A>G | |
| NM_153498.4:c.*1994A>G MANE Select | NP_705718.1:n.*1994A>G |