Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64596914G>A , CM000670.2:g.64596914G>A | GRCh38 |
| NC_000008.10:g.65509471G>A , CM000670.1:g.65509471G>A | GRCh37 |
| NC_000008.9:g.65672025G>A | NCBI36 |
| NG_008338.1:g.206878C>T | |
| NG_008338.2:g.206878C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004820.5:c.1249C>T MANE Select | NP_004811.1:p.Arg417Cys |
| ENST00000310193.4:c.1249C>T MANE Select | ENSP00000310721.3:p.Arg417Cys |
| NM_001324112.1:c.1234-7070C>T | NP_001311041.1:n.1234-7070C>T |
| NM_001324112.2:c.1234-7070C>T | NP_001311041.1:n.1234-7070C>T |
| NM_004820.3:c.1249C>T | NP_004811.1:p.Arg417Cys |
| NM_004820.4:c.1249C>T | NP_004811.1:p.Arg417Cys |
| ENST00000310193.3:c.1249C>T | ENSP00000310721.3:p.Arg417Cys |
| ENST00000523954.1:n.508-7070C>T | |
| XM_017014002.1:c.1315C>T | XP_016869491.1:p.Arg439Cys |