gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00014384 (AFR)
Genomes Max Group AF
0.00006287 (AFR)
Exomes Max Group AF
0.00018341 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17888397C>T , CM000681.2:g.17888397C>T | GRCh38 |
| NC_000019.9:g.17999206C>T , CM000681.1:g.17999206C>T | GRCh37 |
| NC_000019.8:g.17860206C>T | NCBI36 |
| NG_012930.1:g.21425C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222248.4:c.1593C>T MANE Select | ENSP00000222248.2:p.Tyr531= | |
| ENST00000222248.3:c.1593C>T | ENSP00000222248.2:p.Tyr531= | |
| NM_000453.2:c.1593C>T | NP_000444.1:p.Tyr531= | |
| XM_011528192.1:c.1626C>T | XP_011526494.1:p.Tyr542= | |
| XM_011528193.1:c.1359C>T | XP_011526495.1:p.Tyr453= | |
| XM_011528194.1:c.1260C>T | XP_011526496.1:p.Tyr420= | |
| XM_011528192.2:c.1626C>T | XP_011526494.1:p.Tyr542= | |
| XM_011528193.3:c.1359C>T | XP_011526495.1:p.Tyr453= | |
| XM_011528194.3:c.1260C>T | XP_011526496.1:p.Tyr420= | |
| XM_017027158.1:c.1326C>T | XP_016882647.1:p.Tyr442= | |
| NM_000453.3:c.1593C>T MANE Select | NP_000444.1:p.Tyr531= |