Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133935817G>A , CM000665.2:g.133935817G>A | GRCh38 |
| NC_000003.11:g.133654661G>A , CM000665.1:g.133654661G>A | GRCh37 |
| NC_000003.10:g.135137351G>A | NCBI36 |
| NG_031964.2:g.121368C>T | |
| NG_031964.3:g.121368C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005630.3:c.1771C>T MANE Select | NP_005621.2:p.Arg591Ter |
| ENST00000310926.11:c.1771C>T MANE Select | ENSP00000311291.4:p.Arg591Ter |
| NM_005630.2:c.1771C>T | NP_005621.2:p.Arg591Ter |
| ENST00000310926.8:c.1771C>T | ENSP00000311291.4:p.Arg591Ter |
| ENST00000481359.3:c.*333C>T | ENSP00000420028.3:n.*333C>T |
| ENST00000493729.5:c.1543C>T | ENSP00000418893.1:p.Arg515Ter |
| XM_017007077.1:c.1267C>T | XP_016862566.1:p.Arg423Ter |