Linked Data
dbSNP Id:
rs778558596
ExAC:
11:121393302 A / G
gnomAD v2:
11-121393302-A-G
gnomAD v4:
11-121522593-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121522593A>G , CM000673.2:g.121522593A>G | GRCh38 |
| NC_000011.9:g.121393302A>G , CM000673.1:g.121393302A>G | GRCh37 |
| NC_000011.8:g.120898512A>G | NCBI36 |
| NG_023313.1:g.75342A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.1412A>G MANE Select | ENSP00000260197.6:p.Gln471Arg | |
| ENST00000260197.11:c.1412A>G | ENSP00000260197.6:p.Gln471Arg | |
| ENST00000532451.1:n.1364A>G | ||
| NM_003105.5:c.1412A>G | NP_003096.1:p.Gln471Arg | |
| XM_011542963.1:c.1412A>G | XP_011541265.1:p.Gln471Arg | |
| XM_011542964.1:c.1412A>G | XP_011541266.1:p.Gln471Arg | |
| XM_011542965.1:c.-211A>G | XP_011541267.1:n.-211A>G | |
| XM_011542963.3:c.1412A>G | XP_011541265.1:p.Gln471Arg | |
| XM_011542965.3:c.-211A>G | XP_011541267.1:n.-211A>G | |
| XM_017018169.2:c.1100A>G | XP_016873658.1:p.Gln367Arg | |
| XM_017018170.2:c.887A>G | XP_016873659.1:p.Gln296Arg | |
| XM_017018171.1:c.1412A>G | XP_016873660.1:p.Gln471Arg | |
| NM_003105.6:c.1412A>G MANE Select | NP_003096.2:p.Gln471Arg |