gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40001224G>A , CM000677.2:g.40001224G>A | GRCh38 |
| NC_000015.9:g.40293425G>A , CM000677.1:g.40293425G>A | GRCh37 |
| NC_000015.8:g.38080717G>A | NCBI36 |
| NG_034053.1:g.72101G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263791.10:c.3159G>A MANE Select | ENSP00000263791.5:p.Lys1053= | |
| ENST00000263791.9:c.3159G>A | ENSP00000263791.5:p.Lys1053= | |
| ENST00000558629.5:n.2076G>A | ||
| ENST00000560855.5:c.2491G>A | ||
| NM_001013703.3:c.3159G>A | NP_001013725.2:p.Lys1053= | |
| XM_005254392.1:c.3159G>A | XP_005254449.1:p.Lys1053= | |
| XM_011521599.1:c.3159G>A | XP_011519901.1:p.Lys1053= | |
| XM_011521600.1:c.3159G>A | XP_011519902.1:p.Lys1053= | |
| XM_005254392.3:c.3159G>A | XP_005254449.1:p.Lys1053= | |
| XM_011521599.2:c.3159G>A | XP_011519901.1:p.Lys1053= | |
| XM_011521600.3:c.3159G>A | XP_011519902.1:p.Lys1053= | |
| XM_017022219.2:c.3159G>A | XP_016877708.1:p.Lys1053= | |
| NM_001013703.4:c.3159G>A MANE Select | NP_001013725.2:p.Lys1053= |