gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00313799 (MID)
Genomes Max Group AF
0.00005841 (NFE)
Exomes Max Group AF
0.00332831 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89633246C>T , CM000677.2:g.89633246C>T | GRCh38 |
| NC_000015.9:g.90176477C>T , CM000677.1:g.90176477C>T | GRCh37 |
| NC_000015.8:g.87977481C>T | NCBI36 |
| NG_030338.1:g.27206G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696512.1:c.2736G>A | ENSP00000512678.1:p.Glu912= | |
| ENST00000394412.8:c.2613G>A MANE Select | ENSP00000377934.3:p.Glu871= | |
| ENST00000677187.1:n.287G>A | ||
| ENST00000394412.7:c.2613G>A | ENSP00000377934.3:p.Glu871= | |
| NM_198525.2:c.2613G>A | NP_940927.2:p.Glu871= | |
| XM_005254902.2:c.2613G>A | XP_005254959.1:p.Glu871= | |
| XM_011521531.1:c.2736G>A | XP_011519833.1:p.Glu912= | |
| XM_011521532.1:c.2733G>A | XP_011519834.1:p.Glu911= | |
| XM_011521533.1:c.2733G>A | XP_011519835.1:p.Glu911= | |
| XM_011521534.1:c.2736G>A | XP_011519836.1:p.Glu912= | |
| XM_011521535.1:c.2736G>A | XP_011519837.1:p.Glu912= | |
| XM_011521536.1:c.2736G>A | XP_011519838.1:p.Glu912= | |
| XM_011521537.1:c.*8G>A | XP_011519839.1:n.*8G>A | |
| XM_011521531.2:c.2736G>A | XP_011519833.1:p.Glu912= | |
| NM_198525.3:c.2613G>A MANE Select | NP_940927.2:p.Glu871= |