Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201643358C>T , CM000664.2:g.201643358C>T | GRCh38 |
| NC_000002.11:g.202508081C>T , CM000664.1:g.202508081C>T | GRCh37 |
| NC_000002.10:g.202216326C>T | NCBI36 |
| NG_012654.1:g.60337G>A | |
| NG_032049.1:g.5172G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001044385.3:c.42+1G>A MANE Select | NP_001037850.1:n.42+1G>A |
| ENST00000409883.7:c.42+1G>A MANE Select | ENSP00000386264.2:n.42+1G>A |
| NM_001044385.2:c.42+1G>A | NP_001037850.1:n.42+1G>A |
| ENST00000286196.9:c.-33+1G>A | ENSP00000286196.5:n.-33+1G>A |
| ENST00000409883.6:c.42+1G>A | ENSP00000386264.2:n.42+1G>A |
| ENST00000432684.6:c.42+1G>A | ENSP00000413230.2:n.42+1G>A |
| ENST00000444047.6:c.42+1G>A | ENSP00000402681.2:n.42+1G>A |
| ENST00000489550.5:n.60+1G>A |