Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133356390C>T , CM000671.2:g.133356390C>T | GRCh38 |
| NC_000009.10:g.135213087C>T | NCBI36 |
| NG_008477.1:g.5096G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003172.4:c.54+10G>A MANE Select | NP_003163.1:n.54+10G>A |
| ENST00000371974.8:c.54+10G>A MANE Select | ENSP00000361042.3:n.54+10G>A |
| NM_001280787.1:c.-222+10G>A | NP_001267716.1:n.-222+10G>A |
| NM_003172.3:c.54+10G>A | NP_003163.1:n.54+10G>A |
| ENST00000371974.7:c.54+10G>A | ENSP00000361042.3:n.54+10G>A |
| ENST00000463965.1:n.277+10G>A | |
| ENST00000615505.4:c.-222+10G>A | ENSP00000482067.1:n.-222+10G>A |