gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55889748 (NFE)
Genomes Max Group AF
0.53351836 (NFE)
Exomes Max Group AF
0.56019961 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74897589A>G , CM000677.2:g.74897589A>G | GRCh38 |
| NC_000015.9:g.75189930A>G , CM000677.1:g.75189930A>G | GRCh37 |
| NC_000015.8:g.72976983A>G | NCBI36 |
| NG_008921.1:g.12521A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352410.9:c.1131A>G MANE Select | ENSP00000318318.6:p.Val377= | |
| ENST00000323744.10:c.948A>G | ENSP00000318192.6:p.Val316= | |
| ENST00000352410.8:c.1131A>G | ENSP00000318318.6:p.Val377= | |
| ENST00000535694.5:c.981A>G | ENSP00000440447.1:p.Val327= | |
| ENST00000562800.5:c.306A>G | ENSP00000457619.1:p.Val102= | |
| ENST00000563786.5:c.1071A>G | ENSP00000455241.1:p.Val357= | |
| ENST00000566377.5:c.*58A>G | ENSP00000455405.1:n.*58A>G | |
| ENST00000566556.1:n.2156A>G | ||
| ENST00000567177.1:c.700A>G | ENSP00000457013.1:n.700A>G | |
| NM_001289155.1:c.*58A>G | NP_001276084.1:n.*58A>G | |
| NM_001289156.1:c.981A>G | NP_001276085.1:p.Val327= | |
| NM_001289157.1:c.948A>G | NP_001276086.1:p.Val316= | |
| NM_002435.2:c.1131A>G | NP_002426.1:p.Val377= | |
| XM_011521592.1:c.1119A>G | XP_011519894.1:p.Val373= | |
| XM_011521593.1:c.1071A>G | XP_011519895.1:p.Val357= | |
| NM_001330372.1:c.1071A>G | NP_001317301.1:p.Val357= | |
| XM_017022208.1:c.*58A>G | XP_016877697.1:n.*58A>G | |
| XM_017022209.2:c.*58A>G | XP_016877698.1:n.*58A>G | |
| NM_002435.3:c.1131A>G MANE Select | NP_002426.1:p.Val377= | |
| NM_001289155.2:c.*58A>G | NP_001276084.1:n.*58A>G | |
| NM_001289156.2:c.981A>G | NP_001276085.1:p.Val327= | |
| NM_001289157.2:c.948A>G | NP_001276086.1:p.Val316= | |
| NM_001330372.2:c.1071A>G | NP_001317301.1:p.Val357= |