gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00238924 (AFR)
Genomes Max Group AF
0.00209242 (AFR)
Exomes Max Group AF
0.00248574 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12893619C>T , CM000681.2:g.12893619C>T | GRCh38 |
| NC_000019.9:g.13004433C>T , CM000681.1:g.13004433C>T | GRCh37 |
| NC_000019.8:g.12865433C>T | NCBI36 |
| NG_009292.1:g.7460C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.471C>T MANE Select | ENSP00000222214.4:p.Ser157= | |
| ENST00000222214.9:c.471C>T | ENSP00000222214.4:p.Ser157= | |
| ENST00000421816.6:n.449C>T | ||
| ENST00000585420.5:n.836C>T | ||
| ENST00000587832.5:n.528C>T | ||
| ENST00000588905.5:c.435C>T | ENSP00000465770.1:p.Ser145= | |
| ENST00000589039.5:c.408C>T | ENSP00000465618.1:p.Ser136= | |
| ENST00000590530.5:c.526C>T | ENSP00000468452.1:p.Arg176Ter | |
| ENST00000590627.5:n.836C>T | ||
| ENST00000591043.1:n.507C>T | ||
| ENST00000591470.5:c.471C>T | ENSP00000466845.1:p.Ser157= | |
| NM_000159.3:c.471C>T | NP_000150.1:p.Ser157= | |
| NM_013976.3:c.471C>T | NP_039663.1:p.Ser157= | |
| NR_102316.1:n.634C>T | ||
| NR_102317.1:n.887C>T | ||
| XM_006722721.2:c.471C>T | XP_006722784.1:p.Ser157= | |
| XM_011527899.1:c.471C>T | XP_011526201.1:p.Ser157= | |
| XM_011527900.1:c.471C>T | XP_011526202.1:p.Ser157= | |
| XM_011527899.2:c.471C>T | XP_011526201.1:p.Ser157= | |
| XM_011527900.2:c.471C>T | XP_011526202.1:p.Ser157= | |
| XM_017026580.1:c.471C>T | XP_016882069.1:p.Ser157= | |
| NM_000159.4:c.471C>T MANE Select | NP_000150.1:p.Ser157= | |
| NM_013976.4:c.471C>T | NP_039663.1:p.Ser157= | |
| NM_013976.5:c.471C>T | NP_039663.1:p.Ser157= |