gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70439388 (NFE)
Genomes Max Group AF
0.69426323 (NFE)
Exomes Max Group AF
0.7046989 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43744144T>C , CM000685.2:g.43744144T>C | GRCh38 |
| NC_000023.10:g.43603391T>C , CM000685.1:g.43603391T>C | GRCh37 |
| NC_000023.9:g.43488335T>C | NCBI36 |
| NG_008957.2:g.92984T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542639.6:c.1011T>C | ENSP00000440846.1:p.Asp337= | |
| ENST00000686683.1:c.720T>C | ENSP00000509063.1:p.Asp240= | |
| ENST00000686980.1:n.5942T>C | ||
| ENST00000688006.1:c.1011T>C | ENSP00000510311.1:p.Asp337= | |
| ENST00000688859.1:n.966T>C | ||
| ENST00000689087.1:c.1011T>C | ENSP00000508997.1:p.Asp337= | |
| ENST00000693128.1:c.1305T>C | ENSP00000508493.1:p.Asp435= | |
| ENST00000338702.4:c.1410T>C MANE Select | ENSP00000340684.3:p.Asp470= | |
| ENST00000338702.3:c.1410T>C | ENSP00000340684.3:p.Asp470= | |
| ENST00000490604.1:n.238T>C | ||
| ENST00000542639.5:c.1011T>C | ENSP00000440846.1:p.Asp337= | |
| NM_000240.3:c.1410T>C | NP_000231.1:p.Asp470= | |
| NM_001270458.1:c.1011T>C | NP_001257387.1:p.Asp337= | |
| NM_000240.4:c.1410T>C MANE Select | NP_000231.1:p.Asp470= | |
| NM_001270458.2:c.1011T>C | NP_001257387.1:p.Asp337= |