gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.98982795 (EAS)
Genomes Max Group AF
0.97379822 (EAS)
Exomes Max Group AF
0.98947601 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137018032A>G , CM000671.2:g.137018032A>G | GRCh38 |
| NC_000009.11:g.139912484A>G , CM000671.1:g.139912484A>G | GRCh37 |
| NC_000009.10:g.139032305A>G | NCBI36 |
| NG_011789.1:g.15891T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614293.5:c.2127T>C | ENSP00000481105.2:p.Asp709= | |
| ENST00000341511.11:c.2037T>C MANE Select | ENSP00000344155.6:p.Asp679= | |
| ENST00000265662.9:c.2037T>C | ENSP00000265662.5:p.Asp679= | |
| ENST00000341511.10:c.2037T>C | ENSP00000344155.6:p.Asp679= | |
| ENST00000371605.7:c.2034T>C | ENSP00000360666.3:p.Asp678= | |
| ENST00000459850.5:n.2167T>C | ||
| ENST00000466707.1:n.85T>C | ||
| ENST00000479446.5:c.86T>C | ||
| ENST00000487109.5:c.2124T>C | ENSP00000418662.1:p.Asp708= | |
| ENST00000488535.2:c.78T>C | ENSP00000419850.1:p.Asp26= | |
| ENST00000614293.4:c.2127T>C | ENSP00000481105.1:p.Asp709= | |
| NM_001606.4:c.2037T>C | NP_001597.2:p.Asp679= | |
| NM_212533.2:c.2127T>C | NP_997698.1:p.Asp709= | |
| XM_006716996.2:c.2034T>C | XP_006717059.1:p.Asp678= | |
| XM_011518346.1:c.2124T>C | XP_011516648.1:p.Asp708= | |
| XM_006716996.4:c.2034T>C | XP_006717059.1:p.Asp678= | |
| XR_001746224.1:n.2161T>C | ||
| NM_001606.5:c.2037T>C MANE Select | NP_001597.2:p.Asp679= | |
| NM_212533.3:c.2127T>C | NP_997698.1:p.Asp709= |