Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10630072G>T , CM000679.2:g.10630072G>T | GRCh38 |
| NC_000017.10:g.10533389G>T , CM000679.1:g.10533389G>T | GRCh37 |
| NC_000017.9:g.10474114G>T | NCBI36 |
| NG_011537.1:g.32227C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002470.4:c.5562+20C>A MANE Select | NP_002461.2:n.5562+20C>A |
| ENST00000583535.6:c.5562+20C>A MANE Select | ENSP00000464317.1:n.5562+20C>A |
| NM_002470.3:c.5562+20C>A | NP_002461.2:n.5562+20C>A |
| ENST00000583535.5:c.5562+20C>A | ENSP00000464317.1:n.5562+20C>A |
| XM_011523870.1:c.5562+20C>A | XP_011522172.1:n.5562+20C>A |
| XM_011523870.3:c.5562+20C>A | XP_011522172.1:n.5562+20C>A |
| XM_011523871.1:c.5562+20C>A | XP_011522173.1:n.5562+20C>A |
| XM_011523871.2:c.5562+20C>A | XP_011522173.1:n.5562+20C>A |