Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102842874G>T , CM000673.2:g.102842874G>T | GRCh38 |
| NC_000011.9:g.102713605G>T , CM000673.1:g.102713605G>T | GRCh37 |
| NC_000011.8:g.102218815G>T | NCBI36 |
| NG_012100.1:g.5738C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299855.10:c.148C>A MANE Select | ENSP00000299855.5:p.Gln50Lys | |
| ENST00000299855.9:c.148C>A | ENSP00000299855.5:p.Gln50Lys | |
| ENST00000524478.1:c.119C>A | ENSP00000435255.1:p.Thr40Lys | |
| NM_002422.3:c.148C>A | NP_002413.1:p.Gln50Lys | |
| NM_002422.4:c.148C>A | NP_002413.1:p.Gln50Lys | |
| NM_002422.5:c.148C>A MANE Select | NP_002413.1:p.Gln50Lys |