Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612310G>A , CM000679.2:g.41612310G>A | GRCh38 |
| NC_000017.10:g.39768562G>A , CM000679.1:g.39768562G>A | GRCh37 |
| NC_000017.9:g.37022088G>A | NCBI36 |
| NG_008301.1:g.5518C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005557.4:c.379C>T MANE Select | NP_005548.2:p.Arg127Cys |
| ENST00000301653.9:c.379C>T MANE Select | ENSP00000301653.3:p.Arg127Cys |
| NM_005557.3:c.379C>T | NP_005548.2:p.Arg127Cys |
| ENST00000301653.8:c.379C>T | ENSP00000301653.3:p.Arg127Cys |
| ENST00000588319.1:n.456C>T | |
| ENST00000593067.1:c.-312-24C>T | ENSP00000467124.1:n.-312-24C>T |