gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00003587 (SAS)
Exomes Max Group AF
0.00003765 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177097601C>T , CM000667.2:g.177097601C>T | GRCh38 |
| NC_000005.9:g.176524602C>T , CM000667.1:g.176524602C>T | GRCh37 |
| NC_000005.8:g.176457208C>T | NCBI36 |
| NG_012067.1:g.15682C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292408.9:c.2334C>T MANE Select | ENSP00000292408.4:p.Ser778= | |
| ENST00000292408.8:c.2334C>T | ENSP00000292408.4:p.Ser778= | |
| ENST00000393637.5:c.2214C>T | ENSP00000377254.1:p.Ser738= | |
| ENST00000393648.6:c.2130C>T | ENSP00000377259.2:p.Ser710= | |
| ENST00000502906.5:c.2334C>T | ENSP00000424960.1:p.Ser778= | |
| ENST00000513423.1:n.282C>T | ||
| NM_001291980.1:c.2130C>T | NP_001278909.1:p.Ser710= | |
| NM_002011.4:c.2334C>T | NP_002002.3:p.Ser778= | |
| NM_022963.3:c.2214C>T | NP_075252.2:p.Ser738= | |
| NM_213647.2:c.2334C>T | NP_998812.1:p.Ser778= | |
| XM_005265838.2:c.2334C>T | XP_005265895.1:p.Ser778= | |
| XM_011534464.1:c.2427C>T | XP_011532766.1:p.Ser809= | |
| XM_011534465.1:c.2016C>T | XP_011532767.1:p.Ser672= | |
| NM_001354984.1:c.2334C>T | NP_001341913.1:p.Ser778= | |
| NM_213647.3:c.2334C>T MANE Select | NP_998812.1:p.Ser778= | |
| NM_001291980.2:c.2130C>T | NP_001278909.1:p.Ser710= | |
| NM_001354984.2:c.2334C>T | NP_001341913.1:p.Ser778= | |
| NM_002011.5:c.2334C>T | NP_002002.3:p.Ser778= |