gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72820888C>T , CM000671.2:g.72820888C>T | GRCh38 |
| NC_000009.11:g.75435804C>T , CM000671.1:g.75435804C>T | GRCh37 |
| NC_000009.10:g.74625624C>T | NCBI36 |
| NG_008213.1:g.304088C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1810C>T MANE Select | ENSP00000297784.6:p.Arg604Ter | |
| ENST00000644967.1:c.*250C>T | ENSP00000496159.1:n.*250C>T | |
| ENST00000645053.1:c.1258-5981C>T | ENSP00000493838.1:n.1258-5981C>T | |
| ENST00000645208.2:c.1810C>T | ENSP00000494684.1:p.Arg604Ter | |
| ENST00000645773.1:c.1684C>T | ENSP00000493698.1:p.Arg562Ter | |
| ENST00000645787.1:n.1953C>T | ||
| ENST00000646619.1:c.1372C>T | ENSP00000493726.1:p.Arg458Ter | |
| ENST00000651183.1:c.1372C>T | ENSP00000498723.1:p.Arg458Ter | |
| ENST00000297784.9:c.1810C>T | ENSP00000297784.5:p.Arg604Ter | |
| ENST00000340019.4:c.1810C>T | ENSP00000341433.3:p.Arg604Ter | |
| ENST00000469455.1:n.291C>T | ||
| ENST00000486417.5:n.708C>T | ||
| NM_138691.2:c.1810C>T | NP_619636.2:p.Arg604Ter | |
| XM_011518213.1:c.2398C>T | XP_011516515.1:p.Arg800Ter | |
| XM_017014256.1:c.1813C>T | XP_016869745.1:p.Arg605Ter | |
| NM_138691.3:c.1810C>T MANE Select | NP_619636.2:p.Arg604Ter |