gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00174501 (NFE)
Genomes Max Group AF
0.00110122 (NFE)
Exomes Max Group AF
0.0017535 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12915726C>T , CM000686.2:g.12915726C>T | GRCh38 |
| NC_000024.9:g.15027638C>T , CM000686.1:g.15027638C>T | GRCh37 |
| NC_000024.8:g.13537032C>T | NCBI36 |
| NG_012831.1:g.16620C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336079.8:c.1116C>T MANE Select | ENSP00000336725.3:p.Gly372= | |
| ENST00000336079.7:c.1116C>T | ENSP00000336725.3:p.Gly372= | |
| ENST00000360160.8:c.1116C>T | ENSP00000353284.4:p.Gly372= | |
| ENST00000495478.1:n.231C>T | ||
| NM_001122665.2:c.1116C>T | NP_001116137.1:p.Gly372= | |
| NM_001302552.1:c.1107C>T | NP_001289481.1:p.Gly369= | |
| NM_004660.4:c.1116C>T | NP_004651.2:p.Gly372= | |
| XM_006724878.1:c.1116C>T | XP_006724941.1:p.Gly372= | |
| XM_011531471.1:c.1116C>T | XP_011529773.1:p.Gly372= | |
| NM_001122665.3:c.1116C>T | NP_001116137.1:p.Gly372= | |
| NM_001302552.2:c.1107C>T | NP_001289481.1:p.Gly369= | |
| NM_001324195.1:c.1116C>T | NP_001311124.1:p.Gly372= | |
| NR_136716.1:n.1585C>T | ||
| NR_136717.1:n.1347C>T | ||
| NR_136718.1:n.1665C>T | ||
| NR_136719.1:n.1455C>T | ||
| NR_136720.1:n.1585C>T | ||
| NR_136721.1:n.1178C>T | ||
| NR_136722.1:n.1262C>T | ||
| NR_136723.1:n.1580C>T | ||
| NR_136724.1:n.1500C>T | ||
| XR_001756014.2:n.1220C>T | ||
| NM_004660.5:c.1116C>T MANE Select | NP_004651.2:p.Gly372= | |
| NM_001302552.3:c.1107C>T | NP_001289481.1:p.Gly369= | |
| NM_001324195.2:c.1116C>T | NP_001311124.1:p.Gly372= | |
| NR_136716.2:n.1503C>T | ||
| NR_136717.2:n.1265C>T | ||
| NR_136718.2:n.1583C>T | ||
| NR_136719.2:n.1373C>T | ||
| NR_136720.2:n.1503C>T | ||
| NR_136721.2:n.1168C>T |