gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74095751C>T , CM000672.2:g.74095751C>T | GRCh38 |
| NC_000010.10:g.75855509C>T , CM000672.1:g.75855509C>T | GRCh37 |
| NC_000010.9:g.75525515C>T | NCBI36 |
| NG_008868.1:g.102638C>T , LRG_383:g.102638C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000211998.10:c.1639C>T MANE Select | ENSP00000211998.5:p.Arg547Ter | |
| ENST00000211998.8:c.1639C>T | ENSP00000211998.4:p.Arg547Ter | |
| ENST00000372755.7:c.1639C>T | ENSP00000361841.3:p.Arg547Ter | |
| ENST00000436396.1:c.655C>T | ENSP00000415489.1:p.Arg219Ter | |
| ENST00000478896.2:n.332-5303C>T | ||
| ENST00000623461.3:n.4442C>T | ||
| ENST00000624354.3:c.*1394C>T | ENSP00000485551.1:n.*1394C>T | |
| NM_003373.3:c.1639C>T | NP_003364.1:p.Arg547Ter | |
| NM_014000.2:c.1639C>T , LRG_383t1:c.1639C>T | NP_054706.1:p.Arg547Ter | |
| XM_005270142.1:c.1642C>T | XP_005270199.1:p.Arg548Ter | |
| XM_005270143.1:c.1642C>T | XP_005270200.1:p.Arg548Ter | |
| NM_003373.4:c.1639C>T | NP_003364.1:p.Arg547Ter | |
| NM_014000.3:c.1639C>T MANE Select | NP_054706.1:p.Arg547Ter |