Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74591484G>A , CM000685.2:g.74591484G>A | GRCh38 |
| NC_000023.10:g.73811319G>A , CM000685.1:g.73811319G>A | GRCh37 |
| NC_000023.9:g.73728044G>A | NCBI36 |
| NG_013258.1:g.28143C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016120.4:c.1831C>T MANE Select | NP_057204.2:p.Arg611Cys |
| ENST00000332687.11:c.1831C>T MANE Select | ENSP00000328059.6:p.Arg611Cys |
| NM_016120.3:c.1831C>T | NP_057204.2:p.Arg611Cys |
| NM_183353.2:c.1831C>T | NP_899196.1:p.Arg611Cys |
| NM_183353.3:c.1831C>T | NP_899196.1:p.Arg611Cys |
| ENST00000332687.10:c.1831C>T | ENSP00000328059.6:p.Arg611Cys |
| ENST00000349225.2:c.1831C>T | ENSP00000253571.3:p.Arg611Cys |