gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28586051 (AFR)
Genomes Max Group AF
0.28082887 (AFR)
Exomes Max Group AF
0.28913352 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218387907C>T , CM000664.2:g.218387907C>T | GRCh38 |
| NC_000002.11:g.219252630C>T , CM000664.1:g.219252630C>T | GRCh37 |
| NC_000002.10:g.218960874C>T | NCBI36 |
| NG_012128.1:g.10879C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233202.11:c.747C>T MANE Select | ENSP00000233202.6:p.Gly249= | |
| ENST00000233202.10:c.747C>T | ENSP00000233202.6:p.Gly249= | |
| ENST00000354352.9:c.*329C>T | ENSP00000346320.5:n.*329C>T | |
| ENST00000465984.5:n.1223C>T | ||
| ENST00000468221.5:n.3008C>T | ||
| ENST00000469449.1:n.1957C>T | ||
| ENST00000475225.5:n.1124C>T | ||
| ENST00000494322.5:n.843C>T | ||
| ENST00000539932.5:c.*355C>T | ENSP00000443435.2:n.*355C>T | |
| NM_000578.3:c.747C>T | NP_000569.3:p.Gly249= | |
| XM_005246793.2:c.546C>T | XP_005246850.1:p.Gly182= | |
| XM_005246794.2:c.393C>T | XP_005246851.1:p.Gly131= | |
| XM_006712709.2:c.393C>T | XP_006712772.1:p.Gly131= | |
| XM_006712710.2:c.393C>T | XP_006712773.1:p.Gly131= | |
| XM_006712711.2:c.300C>T | XP_006712774.1:p.Gly100= | |
| XM_011511684.1:c.420C>T | XP_011509986.1:p.Gly140= | |
| XM_011511685.1:c.420C>T | XP_011509987.1:p.Gly140= | |
| XR_427107.1:n.910C>T | ||
| XR_427108.2:n.1207C>T | ||
| XM_005246793.4:c.546C>T | XP_005246850.1:p.Gly182= | |
| XM_005246794.4:c.393C>T | XP_005246851.1:p.Gly131= | |
| XM_006712709.4:c.393C>T | XP_006712772.1:p.Gly131= | |
| XM_006712710.4:c.393C>T | XP_006712773.1:p.Gly131= | |
| XM_006712711.4:c.300C>T | XP_006712774.1:p.Gly100= | |
| XM_011511684.3:c.420C>T | XP_011509986.1:p.Gly140= | |
| XM_011511685.3:c.420C>T | XP_011509987.1:p.Gly140= | |
| XM_017004765.2:c.624C>T | XP_016860254.1:p.Gly208= | |
| XM_017004766.2:c.546C>T | XP_016860255.1:p.Gly182= | |
| XM_017004767.2:c.747C>T | XP_016860256.1:p.Gly249= | |
| XR_427107.3:n.896C>T | ||
| XR_427108.4:n.1207C>T | ||
| NM_000578.4:c.747C>T MANE Select | NP_000569.3:p.Gly249= |