ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00439926 (NFE)
Genomes Max Group AF
0.00440619 (NFE)
Exomes Max Group AF
0.00437626 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148114438G>A , CM000667.2:g.148114438G>A | GRCh38 |
| NC_000005.9:g.147494001G>A , CM000667.1:g.147494001G>A | GRCh37 |
| NC_000005.8:g.147474194G>A | NCBI36 |
| NG_009633.1:g.55467G>A , LRG_110:g.55467G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256084.8:c.1964G>A MANE Select | ENSP00000256084.7:p.Gly655Asp | |
| ENST00000256084.7:c.1964G>A | ENSP00000256084.7:p.Gly655Asp | |
| ENST00000359874.7:c.1964G>A | ENSP00000352936.3:p.Gly655Asp | |
| ENST00000398454.5:c.1964G>A | ENSP00000381472.1:p.Gly655Asp | |
| ENST00000507988.5:n.2128G>A | ||
| ENST00000508733.5:c.1907G>A | ENSP00000421519.1:p.Gly636Asp | |
| NM_001127698.1:c.1964G>A | NP_001121170.1:p.Gly655Asp | |
| NM_001127699.1:c.1964G>A | NP_001121171.1:p.Gly655Asp | |
| NM_006846.3:c.1964G>A , LRG_110t1:c.1964G>A | NP_006837.2:p.Gly655Asp | |
| XM_011537550.1:c.1907G>A | XP_011535852.1:p.Gly636Asp | |
| XM_011537551.1:c.1880G>A | XP_011535853.1:p.Gly627Asp | |
| XM_011537551.2:c.1880G>A | XP_011535853.1:p.Gly627Asp | |
| NM_001127698.2:c.1964G>A | NP_001121170.1:p.Gly655Asp | |
| NM_001127699.2:c.1964G>A | NP_001121171.1:p.Gly655Asp | |
| NM_006846.4:c.1964G>A MANE Select | NP_006837.2:p.Gly655Asp |