gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002313 (NFE)
Genomes Max Group AF
0.00006804 (NFE)
Exomes Max Group AF
0.00001746 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72792320C>T , CM000671.2:g.72792320C>T | GRCh38 |
| NC_000009.11:g.75407236C>T , CM000671.1:g.75407236C>T | GRCh37 |
| NC_000009.10:g.74597056C>T | NCBI36 |
| NG_008213.1:g.275520C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1534C>T MANE Select | ENSP00000297784.6:p.Arg512Ter | |
| ENST00000644967.1:c.1096C>T | ENSP00000496159.1:p.Arg366Ter | |
| ENST00000645053.1:c.1096C>T | ENSP00000493838.1:p.Arg366Ter | |
| ENST00000645208.2:c.1534C>T | ENSP00000494684.1:p.Arg512Ter | |
| ENST00000645773.1:c.1408C>T | ENSP00000493698.1:p.Arg470Ter | |
| ENST00000645787.1:n.1574C>T | ||
| ENST00000646619.1:c.1096C>T | ENSP00000493726.1:p.Arg366Ter | |
| ENST00000650689.1:n.1832C>T | ||
| ENST00000651183.1:c.1096C>T | ENSP00000498723.1:p.Arg366Ter | |
| ENST00000297784.9:c.1534C>T | ENSP00000297784.5:p.Arg512Ter | |
| ENST00000340019.4:c.1534C>T | ENSP00000341433.3:p.Arg512Ter | |
| ENST00000486417.5:n.158C>T | ||
| NM_138691.2:c.1534C>T | NP_619636.2:p.Arg512Ter | |
| XM_011518213.1:c.2122C>T | XP_011516515.1:p.Arg708Ter | |
| XM_017014256.1:c.1537C>T | XP_016869745.1:p.Arg513Ter | |
| NM_138691.3:c.1534C>T MANE Select | NP_619636.2:p.Arg512Ter |