gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82299627 (EAS)
Genomes Max Group AF
0.79854272 (EAS)
Exomes Max Group AF
0.82404307 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117172802C>T , CM000670.2:g.117172802C>T | GRCh38 |
| NC_000008.10:g.118185041C>T , CM000670.1:g.118185041C>T | GRCh37 |
| NC_000008.9:g.118254222C>T | NCBI36 |
| NG_016991.1:g.227530C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456015.7:c.*121C>T MANE Select | ENSP00000415011.2:n.*121C>T | |
| ENST00000427715.2:c.*121C>T | ENSP00000407505.2:n.*121C>T | |
| ENST00000456015.6:c.1231C>T | ENSP00000415011.2:n.1231C>T | |
| ENST00000519688.5:c.*121C>T | ENSP00000431069.1:n.*121C>T | |
| NM_001172811.1:c.*121C>T | NP_001166282.1:n.*121C>T | |
| NM_001172813.1:c.*121C>T | NP_001166284.1:n.*121C>T | |
| NM_001172814.1:c.*121C>T | NP_001166285.1:n.*121C>T | |
| NM_001172815.1:c.*121C>T | NP_001166286.1:n.*121C>T | |
| NM_173851.2:c.*121C>T | NP_776250.2:n.*121C>T | |
| XM_011516881.1:c.*121C>T | XP_011515183.1:n.*121C>T | |
| XM_011516882.1:c.*121C>T | XP_011515184.1:n.*121C>T | |
| XR_928569.1:n.890-57G>A | ||
| XR_928570.1:n.890-57G>A | ||
| NM_001172815.2:c.*121C>T | NP_001166286.1:n.*121C>T | |
| XM_024447083.1:c.*121C>T | XP_024302851.1:n.*121C>T | |
| XR_928569.2:n.843-57G>A | ||
| XR_928570.2:n.843-57G>A | ||
| NM_001172811.2:c.*121C>T | NP_001166282.1:n.*121C>T | |
| NM_001172813.2:c.*121C>T | NP_001166284.1:n.*121C>T | |
| NM_001172814.2:c.*121C>T | NP_001166285.1:n.*121C>T | |
| NM_173851.3:c.*121C>T MANE Select | NP_776250.2:n.*121C>T | |
| NM_001172815.3:c.*121C>T | NP_001166286.1:n.*121C>T |