gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
7.2e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58145949C>T , CM000665.2:g.58145949C>T | GRCh38 |
| NC_000003.11:g.58131676C>T , CM000665.1:g.58131676C>T | GRCh37 |
| NC_000003.10:g.58106716C>T | NCBI36 |
| NG_012801.1:g.142550C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682297.1:n.806C>T | ||
| ENST00000682871.1:c.5334C>T | ENSP00000507805.1:p.Tyr1778= | |
| ENST00000683925.1:n.1552C>T | ||
| ENST00000684439.1:n.1765C>T | ||
| ENST00000684506.1:c.*4007C>T | ENSP00000507728.1:n.*4007C>T | |
| ENST00000684607.1:c.5475C>T | ENSP00000508224.1:p.Tyr1825= | |
| ENST00000295956.9:c.5454C>T MANE Select | ENSP00000295956.5:p.Tyr1818= | |
| ENST00000295956.8:c.5454C>T | ENSP00000295956.4:p.Tyr1818= | |
| ENST00000358537.7:c.5382C>T | ENSP00000351339.3:p.Tyr1794= | |
| ENST00000429972.6:c.5421C>T | ENSP00000415599.2:p.Tyr1807= | |
| ENST00000481470.5:n.1722C>T | ||
| ENST00000490882.5:c.5547C>T | ENSP00000420213.1:p.Tyr1849= | |
| ENST00000493452.5:c.4875C>T | ENSP00000418510.1:p.Tyr1625= | |
| NM_001164317.1:c.5547C>T | NP_001157789.1:p.Tyr1849= | |
| NM_001164318.1:c.5421C>T | NP_001157790.1:p.Tyr1807= | |
| NM_001164319.1:c.5382C>T | NP_001157791.1:p.Tyr1794= | |
| NM_001457.3:c.5454C>T | NP_001448.2:p.Tyr1818= | |
| XM_005264977.1:c.5514C>T | XP_005265034.1:p.Tyr1838= | |
| XM_005264978.1:c.5475C>T | XP_005265035.1:p.Tyr1825= | |
| XM_005264981.1:c.5547C>T | XP_005265038.1:p.Tyr1849= | |
| XR_940396.1:n.5692C>T | ||
| XM_005264978.2:c.5475C>T | XP_005265035.1:p.Tyr1825= | |
| XR_001740065.1:n.5692C>T | ||
| XR_940396.2:n.5692C>T | ||
| NM_001164317.2:c.5547C>T | NP_001157789.1:p.Tyr1849= | |
| NM_001164318.2:c.5421C>T | NP_001157790.1:p.Tyr1807= | |
| NM_001164319.2:c.5382C>T | NP_001157791.1:p.Tyr1794= | |
| NM_001457.4:c.5454C>T MANE Select | NP_001448.2:p.Tyr1818= |