Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133354823C>T , CM000671.2:g.133354823C>T | GRCh38 |
| NC_000009.10:g.135211499C>T | NCBI36 |
| NG_008477.1:g.6684G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003172.4:c.240+1G>A MANE Select | NP_003163.1:n.240+1G>A |
| ENST00000371974.8:c.240+1G>A MANE Select | ENSP00000361042.3:n.240+1G>A |
| NM_001280787.1:c.-88+1G>A | NP_001267716.1:n.-88+1G>A |
| NM_003172.3:c.240+1G>A | NP_003163.1:n.240+1G>A |
| ENST00000371974.7:c.240+1G>A | ENSP00000361042.3:n.240+1G>A |
| ENST00000437995.1:n.186+1G>A | |
| ENST00000615505.4:c.-88+1G>A | ENSP00000482067.1:n.-88+1G>A |
| XM_011518942.1:c.-88+1G>A | XP_011517244.1:n.-88+1G>A |