Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102842760G>A , CM000673.2:g.102842760G>A | GRCh38 |
| NC_000011.9:g.102713491G>A , CM000673.1:g.102713491G>A | GRCh37 |
| NC_000011.8:g.102218701G>A | NCBI36 |
| NG_012100.1:g.5852C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299855.10:c.262C>T MANE Select | ENSP00000299855.5:p.Arg88Cys | |
| ENST00000299855.9:c.262C>T | ENSP00000299855.5:p.Arg88Cys | |
| ENST00000524478.1:c.*104C>T | ENSP00000435255.1:n.*104C>T | |
| NM_002422.3:c.262C>T | NP_002413.1:p.Arg88Cys | |
| NM_002422.4:c.262C>T | NP_002413.1:p.Arg88Cys | |
| NM_002422.5:c.262C>T MANE Select | NP_002413.1:p.Arg88Cys |