Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34770302C>T , CM000668.2:g.34770302C>T | GRCh38 |
| NC_000006.11:g.34738079C>T , CM000668.1:g.34738079C>T | GRCh37 |
| NC_000006.10:g.34846057C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003093.3:c.262C>T MANE Select | NP_003084.1:p.Arg88Cys |
| ENST00000244520.10:c.262C>T MANE Select | ENSP00000244520.5:p.Arg88Cys |
| NM_003093.2:c.262C>T | NP_003084.1:p.Arg88Cys |
| NR_029472.1:n.669C>T | |
| NR_029472.2:n.258C>T | |
| ENST00000244520.9:c.262C>T | ENSP00000244520.5:p.Arg88Cys |
| ENST00000374017.3:c.325C>T | ENSP00000363129.3:p.Arg109Cys |
| ENST00000374018.5:c.139C>T | ENSP00000363130.1:p.Arg47Cys |
| ENST00000474635.1:n.254C>T |