gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000615 (NFE)
Exomes Max Group AF
0.00000653 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225403404G>A , CM000663.2:g.225403404G>A | GRCh38 |
| NC_000001.10:g.225591106G>A , CM000663.1:g.225591106G>A | GRCh37 |
| NC_000001.9:g.223657729G>A | NCBI36 |
| NG_008099.1:g.30414C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272163.9:c.1747C>T MANE Select | ENSP00000272163.4:p.Arg583Ter | |
| ENST00000651341.1:c.*913C>T | ENSP00000499114.1:n.*913C>T | |
| ENST00000272163.8:c.1747C>T | ENSP00000272163.4:p.Arg583Ter | |
| ENST00000338179.6:c.1747C>T | ENSP00000339883.2:p.Arg583Ter | |
| ENST00000441022.1:n.222C>T | ||
| NM_002296.3:c.1747C>T | NP_002287.2:p.Arg583Ter | |
| NM_194442.2:c.1747C>T | NP_919424.1:p.Arg583Ter | |
| XM_005273125.2:c.1621C>T | XP_005273182.1:p.Arg541Ter | |
| XM_011544185.1:c.1747C>T | XP_011542487.1:p.Arg583Ter | |
| XM_011544186.1:c.1666C>T | XP_011542488.1:p.Arg556Ter | |
| XM_005273125.3:c.1621C>T | XP_005273182.1:p.Arg541Ter | |
| XM_011544185.3:c.1747C>T | XP_011542487.1:p.Arg583Ter | |
| XR_001737168.2:n.1770C>T | ||
| NM_002296.4:c.1747C>T MANE Select | NP_002287.2:p.Arg583Ter | |
| NM_194442.3:c.1747C>T | NP_919424.1:p.Arg583Ter |