gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00016637 (AMR)
Exomes Max Group AF
0.00022384 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17888397C>G , CM000681.2:g.17888397C>G | GRCh38 |
| NC_000019.9:g.17999206C>G , CM000681.1:g.17999206C>G | GRCh37 |
| NC_000019.8:g.17860206C>G | NCBI36 |
| NG_012930.1:g.21425C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222248.4:c.1593C>G MANE Select | ENSP00000222248.2:p.Tyr531Ter | |
| ENST00000222248.3:c.1593C>G | ENSP00000222248.2:p.Tyr531Ter | |
| NM_000453.2:c.1593C>G | NP_000444.1:p.Tyr531Ter | |
| XM_011528192.1:c.1626C>G | XP_011526494.1:p.Tyr542Ter | |
| XM_011528193.1:c.1359C>G | XP_011526495.1:p.Tyr453Ter | |
| XM_011528194.1:c.1260C>G | XP_011526496.1:p.Tyr420Ter | |
| XM_011528192.2:c.1626C>G | XP_011526494.1:p.Tyr542Ter | |
| XM_011528193.3:c.1359C>G | XP_011526495.1:p.Tyr453Ter | |
| XM_011528194.3:c.1260C>G | XP_011526496.1:p.Tyr420Ter | |
| XM_017027158.1:c.1326C>G | XP_016882647.1:p.Tyr442Ter | |
| NM_000453.3:c.1593C>G MANE Select | NP_000444.1:p.Tyr531Ter |