gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00055426 (SAS)
Genomes Max Group AF
0.00051825 (AFR)
Exomes Max Group AF
0.00054444 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10624419C>T , CM000663.2:g.10624419C>T | GRCh38 |
| NC_000001.10:g.10684476C>T , CM000663.1:g.10684476C>T | GRCh37 |
| NC_000001.9:g.10607063C>T | NCBI36 |
| NG_008340.1:g.154474C>T | |
| NG_008340.2:g.154474C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356607.9:c.567C>T MANE Select | ENSP00000349016.4:p.His189= | |
| ENST00000356607.8:c.567C>T | ENSP00000349016.4:p.His189= | |
| NM_004565.2:c.567C>T | NP_004556.1:p.His189= | |
| XM_005263470.3:c.375C>T | XP_005263527.1:p.His125= | |
| XM_011541577.1:c.609C>T | XP_011539879.1:p.His203= | |
| XM_011541578.1:c.510C>T | XP_011539880.1:p.His170= | |
| XM_011541579.1:c.480C>T | XP_011539881.1:p.His160= | |
| XM_011541580.1:c.438C>T | XP_011539882.1:p.His146= | |
| XM_005263470.5:c.375C>T | XP_005263527.1:p.His125= | |
| XM_011541577.2:c.609C>T | XP_011539879.1:p.His203= | |
| XM_011541578.2:c.510C>T | XP_011539880.1:p.His170= | |
| XM_011541579.3:c.480C>T | XP_011539881.1:p.His160= | |
| XM_024447651.1:c.375C>T | XP_024303419.1:p.His125= | |
| NM_004565.3:c.567C>T MANE Select | NP_004556.1:p.His189= |