gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46363699C>T , CM000683.2:g.46363699C>T | GRCh38 |
| NC_000021.8:g.47783614C>T , CM000683.1:g.47783614C>T | GRCh37 |
| NC_000021.7:g.46608042C>T | NCBI36 |
| NG_008961.1:g.44579C>T | |
| NG_008961.2:g.44578C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466474.6:c.*870C>T | ENSP00000511987.1:n.*870C>T | |
| ENST00000695525.1:n.2460C>T | ||
| ENST00000695558.1:c.2374C>T | ENSP00000512015.1:p.Arg792Ter | |
| ENST00000703224.1:c.*1617C>T | ENSP00000515242.1:n.*1617C>T | |
| ENST00000359568.10:c.2374C>T MANE Select | ENSP00000352572.5:p.Arg792Ter | |
| ENST00000359568.9:c.2374C>T | ENSP00000352572.5:p.Arg792Ter | |
| ENST00000480896.5:n.2643C>T | ||
| NM_001315529.1:c.2020C>T | NP_001302458.1:p.Arg674Ter | |
| NM_006031.5:c.2374C>T | NP_006022.3:p.Arg792Ter | |
| XM_005261124.3:c.2374C>T | XP_005261181.1:p.Arg792Ter | |
| XM_011529593.1:c.2455C>T | XP_011527895.1:p.Arg819Ter | |
| XM_011529594.1:c.2455C>T | XP_011527896.1:p.Arg819Ter | |
| XM_005261124.5:c.2374C>T | XP_005261181.1:p.Arg792Ter | |
| XM_011529594.3:c.2455C>T | XP_011527896.1:p.Arg819Ter | |
| XM_017028362.2:c.2374C>T | XP_016883851.1:p.Arg792Ter | |
| XM_017028363.1:c.2020C>T | XP_016883852.1:p.Arg674Ter | |
| XM_024452082.1:c.1258C>T | XP_024307850.1:p.Arg420Ter | |
| XM_024452083.1:c.154C>T | XP_024307851.1:p.Arg52Ter | |
| NM_006031.6:c.2374C>T MANE Select | NP_006022.3:p.Arg792Ter | |
| NM_001315529.2:c.2020C>T | NP_001302458.1:p.Arg674Ter |