gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005545 (NFE)
Genomes Max Group AF
0.00004764 (NFE)
Exomes Max Group AF
0.00005335 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34517395C>A , CM000671.2:g.34517395C>A | GRCh38 |
| NC_000009.11:g.34517393C>A , CM000671.1:g.34517393C>A | GRCh37 |
| NC_000009.10:g.34507393C>A | NCBI36 |
| NG_008127.1:g.63583C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242317.9:c.1929C>A MANE Select | ENSP00000242317.4:p.Ile643= | |
| ENST00000242317.8:c.1929C>A | ENSP00000242317.4:p.Ile643= | |
| ENST00000442556.1:c.329+2656C>A | ||
| ENST00000470169.5:c.717C>A | ||
| ENST00000485580.1:n.505C>A | ||
| ENST00000614641.4:c.1941C>A | ENSP00000480538.1:p.Ile647= | |
| NM_001281428.1:c.1941C>A | NP_001268357.1:p.Ile647= | |
| NM_012144.3:c.1929C>A | NP_036276.1:p.Ile643= | |
| XM_006716758.2:c.1398C>A | XP_006716821.1:p.Ile466= | |
| XM_011517848.1:c.1683C>A | XP_011516150.1:p.Ile561= | |
| XM_006716758.3:c.1398C>A | XP_006716821.1:p.Ile466= | |
| XM_011517848.2:c.1683C>A | XP_011516150.1:p.Ile561= | |
| XM_017014625.2:c.1671C>A | XP_016870114.1:p.Ile557= | |
| XR_002956774.1:n.2032C>A | ||
| NM_012144.4:c.1929C>A MANE Select | NP_036276.1:p.Ile643= | |
| NM_001281428.2:c.1941C>A | NP_001268357.1:p.Ile647= |