Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102843046G>T , CM000673.2:g.102843046G>T | GRCh38 |
| NC_000011.9:g.102713777G>T , CM000673.1:g.102713777G>T | GRCh37 |
| NC_000011.8:g.102218987G>T | NCBI36 |
| NG_012100.1:g.5566C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002422.5:c.106-130C>A MANE Select | NP_002413.1:n.106-130C>A |
| ENST00000299855.10:c.106-130C>A MANE Select | ENSP00000299855.5:n.106-130C>A |
| NM_002422.3:c.106-130C>A | NP_002413.1:n.106-130C>A |
| NM_002422.4:c.106-130C>A | NP_002413.1:n.106-130C>A |
| ENST00000299855.9:c.106-130C>A | ENSP00000299855.5:n.106-130C>A |
| ENST00000524478.1:c.77-130C>A | ENSP00000435255.1:n.77-130C>A |