gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00043684 (AFR)
Genomes Max Group AF
0.00026027 (AFR)
Exomes Max Group AF
0.00054408 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148433506C>T , CM000667.2:g.148433506C>T | GRCh38 |
| NC_000005.9:g.147813069C>T , CM000667.1:g.147813069C>T | GRCh37 |
| NC_000005.8:g.147793262C>T | NCBI36 |
| NG_033871.1:g.54572C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340253.10:c.2736C>T MANE Select | ENSP00000342023.6:p.Ile912= | |
| ENST00000296701.10:c.2001C>T | ENSP00000296701.6:p.Ile667= | |
| ENST00000340253.9:c.2736C>T | ENSP00000342023.5:p.Ile912= | |
| ENST00000394370.7:c.2511C>T | ENSP00000377895.3:p.Ile837= | |
| ENST00000504447.1:n.274C>T | ||
| ENST00000505399.2:n.183C>T | ||
| ENST00000513826.1:c.2001C>T | ENSP00000426410.1:p.Ile667= | |
| NM_001271723.1:c.2001C>T | NP_001258652.1:p.Ile667= | |
| NM_030793.4:c.2511C>T | NP_110420.3:p.Ile837= | |
| XM_005268513.1:c.2736C>T | XP_005268570.1:p.Ile912= | |
| XM_006714797.1:c.2610C>T | XP_006714860.1:p.Ile870= | |
| XM_011537683.1:c.1638C>T | XP_011535985.1:p.Ile546= | |
| XM_011537684.1:c.1536C>T | XP_011535986.1:p.Ile512= | |
| NM_205836.2:c.2736C>T | NP_995308.1:p.Ile912= | |
| XM_006714797.2:c.2610C>T | XP_006714860.1:p.Ile870= | |
| XM_011537684.3:c.1536C>T | XP_011535986.1:p.Ile512= | |
| XM_017009899.1:c.1638C>T | XP_016865388.1:p.Ile546= | |
| XM_017009900.2:c.1536C>T | XP_016865389.1:p.Ile512= | |
| XM_017009901.2:c.1413C>T | XP_016865390.1:p.Ile471= | |
| XM_017009902.2:c.1311C>T | XP_016865391.1:p.Ile437= | |
| XM_024446223.1:c.2736C>T | XP_024301991.1:p.Ile912= | |
| XR_001742284.1:n.2882C>T | ||
| NM_030793.5:c.2511C>T | NP_110420.3:p.Ile837= | |
| NM_205836.3:c.2736C>T MANE Select | NP_995308.1:p.Ile912= | |
| NM_001271723.2:c.2001C>T | NP_001258652.1:p.Ile667= |