Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110173899C>T , CM000675.2:g.110173899C>T | GRCh38 |
| NC_000013.10:g.110826246C>T , CM000675.1:g.110826246C>T | GRCh37 |
| NC_000013.9:g.109624247C>T | NCBI36 |
| NG_011544.2:g.138251G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001845.6:c.3505+1G>A MANE Select | NP_001836.3:n.3505+1G>A |
| ENST00000375820.10:c.3505+1G>A MANE Select | ENSP00000364979.4:n.3505+1G>A |
| NM_001845.5:c.3505+1G>A | NP_001836.3:n.3505+1G>A |
| ENST00000375820.8:c.3505+1G>A | ENSP00000364979.4:n.3505+1G>A |
| XM_011521048.1:c.3313+1G>A | XP_011519350.1:n.3313+1G>A |
| XM_011521048.2:c.3313+1G>A | XP_011519350.1:n.3313+1G>A |