Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78125051G>T , CM000685.2:g.78125051G>T | GRCh38 |
| NC_000023.10:g.77380548G>T , CM000685.1:g.77380548G>T | GRCh37 |
| NC_000023.9:g.77267204G>T | NCBI36 |
| NG_008862.1:g.25883G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.1114G>T MANE Select | ENSP00000362413.4:p.Gly372Cys | |
| ENST00000644362.1:c.1030G>T | ENSP00000496140.1:p.Gly344Cys | |
| ENST00000373316.4:c.1114G>T | ENSP00000362413.4:p.Gly372Cys | |
| ENST00000476531.1:n.108G>T | ||
| NM_000291.3:c.1114G>T | NP_000282.1:p.Gly372Cys | |
| NM_000291.4:c.1114G>T MANE Select | NP_000282.1:p.Gly372Cys |