Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48970715G>A , CM000681.2:g.48970715G>A | GRCh38 |
| NC_000019.9:g.49473972G>A , CM000681.1:g.49473972G>A | GRCh37 |
| NC_000019.8:g.54165784G>A | NCBI36 |
| NG_012923.1:g.27639C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002103.5:c.1646-6C>T MANE Select | NP_002094.2:n.1646-6C>T |
| ENST00000323798.8:c.1646-6C>T MANE Select | ENSP00000317904.3:n.1646-6C>T |
| NM_001161587.1:c.1454-6C>T | NP_001155059.1:n.1454-6C>T |
| NM_001161587.2:c.1454-6C>T | NP_001155059.1:n.1454-6C>T |
| NM_002103.4:c.1646-6C>T | NP_002094.2:n.1646-6C>T |
| NR_027763.1:n.1705-6C>T | |
| NR_027763.2:n.1661-6C>T | |
| ENST00000263276.6:c.1454-6C>T | ENSP00000263276.6:n.1454-6C>T |
| ENST00000323798.7:c.1646-6C>T | ENSP00000317904.3:n.1646-6C>T |