gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00275307 (AFR)
Genomes Max Group AF
0.00275781 (AFR)
Exomes Max Group AF
0.00245827 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129491967C>A , CM000668.2:g.129491967C>A | GRCh38 |
| NC_000006.11:g.129813112C>A , CM000668.1:g.129813112C>A | GRCh37 |
| NC_000006.10:g.129854805C>A | NCBI36 |
| NG_008678.1:g.613827C>A , LRG_409:g.613827C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494137.2:c.30C>A | ENSP00000510626.1:p.Ile10= | |
| ENST00000498257.6:c.30C>A | ENSP00000510533.1:p.Ile10= | |
| ENST00000617695.5:c.7953C>A | ENSP00000481744.2:p.Ile2651= | |
| ENST00000618192.5:c.8229C>A | ENSP00000480802.2:p.Ile2743= | |
| ENST00000688198.1:n.943C>A | ||
| ENST00000688799.1:c.30C>A | ENSP00000508458.1:p.Ile10= | |
| ENST00000690858.1:n.959C>A | ||
| ENST00000421865.3:c.7965C>A MANE Select | ENSP00000400365.2:p.Ile2655= | |
| ENST00000421865.2:c.7965C>A | ENSP00000400365.2:p.Ile2655= | |
| ENST00000494137.1:n.127C>A | ||
| ENST00000498257.5:n.278C>A | ||
| ENST00000617695.4:c.7953C>A | ENSP00000481744.1:p.Ile2651= | |
| ENST00000618192.4:c.7962C>A | ENSP00000480802.1:p.Ile2654= | |
| NM_000426.3:c.7965C>A , LRG_409t1:c.7965C>A | NP_000417.2:p.Ile2655= | |
| NM_001079823.1:c.7953C>A | NP_001073291.1:p.Ile2651= | |
| XM_005266981.2:c.8229C>A | XP_005267038.1:p.Ile2743= | |
| XM_005266982.2:c.8217C>A | XP_005267039.1:p.Ile2739= | |
| XM_011535820.1:c.8223C>A | XP_011534122.1:p.Ile2741= | |
| XM_005266981.3:c.8229C>A | XP_005267038.1:p.Ile2743= | |
| XM_005266982.3:c.8217C>A | XP_005267039.1:p.Ile2739= | |
| XM_011535820.2:c.8223C>A | XP_011534122.1:p.Ile2741= | |
| XM_017010851.2:c.8235C>A | XP_016866340.1:p.Ile2745= | |
| XM_017010852.1:c.6360C>A | XP_016866341.1:p.Ile2120= | |
| NM_000426.4:c.7965C>A MANE Select | NP_000417.3:p.Ile2655= | |
| NM_001079823.2:c.7953C>A | NP_001073291.2:p.Ile2651= |