gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003587 (SAS)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00003765 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36985871A>G , CM000667.2:g.36985871A>G | GRCh38 |
| NC_000005.9:g.36985973A>G , CM000667.1:g.36985973A>G | GRCh37 |
| NC_000005.8:g.37021730A>G | NCBI36 |
| NG_006987.1:g.113989A>G | |
| NG_006987.2:g.113989A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.2691A>G MANE Select | ENSP00000282516.8:p.Gln897= | |
| ENST00000652901.1:c.2691A>G | ENSP00000499536.1:p.Gln897= | |
| ENST00000282516.12:c.2691A>G | ENSP00000282516.8:p.Gln897= | |
| ENST00000448238.2:c.2691A>G | ENSP00000406266.2:p.Gln897= | |
| ENST00000504430.5:n.2311A>G | ||
| ENST00000621733.1:c.1-78707A>G | ENSP00000480694.1:n.1-78707A>G | |
| NM_015384.4:c.2691A>G | NP_056199.2:p.Gln897= | |
| NM_133433.3:c.2691A>G | NP_597677.2:p.Gln897= | |
| XM_005248280.2:c.2691A>G | XP_005248337.1:p.Gln897= | |
| XM_005248282.3:c.1947A>G | XP_005248339.2:p.Gln649= | |
| XM_006714467.2:c.2691A>G | XP_006714530.1:p.Gln897= | |
| XM_006714468.1:c.2691A>G | XP_006714531.1:p.Gln897= | |
| XM_011514014.1:c.2691A>G | XP_011512316.1:p.Gln897= | |
| XM_011514015.1:c.2691A>G | XP_011512317.1:p.Gln897= | |
| XM_005248280.3:c.2691A>G | XP_005248337.1:p.Gln897= | |
| XM_005248282.5:c.2031A>G | XP_005248339.3:p.Gln677= | |
| XM_006714468.2:c.2691A>G | XP_006714531.1:p.Gln897= | |
| XM_017009329.1:c.2691A>G | XP_016864818.1:p.Gln897= | |
| XM_017009330.2:c.1074A>G | XP_016864819.1:p.Gln358= | |
| XM_017009331.1:c.1495+9469A>G | XP_016864820.1:n.1495+9469A>G | |
| NM_133433.4:c.2691A>G MANE Select | NP_597677.2:p.Gln897= | |
| NM_015384.5:c.2691A>G | NP_056199.2:p.Gln897= |