Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40561572G>T , CM000679.2:g.40561572G>T | GRCh38 |
| NC_000017.10:g.38717824G>T , CM000679.1:g.38717824G>T | GRCh37 |
| NC_000017.9:g.35971350G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000246657.2:c.11-2630C>A MANE Select | ENSP00000246657.2:n.11-2630C>A | |
| ENST00000578085.1:c.-130+3828C>A | ENSP00000463075.1:n.-130+3828C>A | |
| NM_001301714.1:c.-130+3828C>A | NP_001288643.1:n.-130+3828C>A | |
| NM_001838.3:c.11-2630C>A | NP_001829.1:n.11-2630C>A | |
| NM_001838.4:c.11-2630C>A MANE Select | NP_001829.1:n.11-2630C>A | |
| NM_001301714.2:c.-130+3828C>A | NP_001288643.1:n.-130+3828C>A |