HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40561735C>T , CM000679.2:g.40561735C>T | GRCh38 |
NC_000017.10:g.38717987C>T , CM000679.1:g.38717987C>T | GRCh37 |
NC_000017.9:g.35971513C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000246657.2:c.11-2793G>A MANE Select | ENSP00000246657.2:n.11-2793G>A | |
ENST00000578085.1:c.-130+3665G>A | ENSP00000463075.1:n.-130+3665G>A | |
NM_001301714.1:c.-130+3665G>A | NP_001288643.1:n.-130+3665G>A | |
NM_001838.3:c.11-2793G>A | NP_001829.1:n.11-2793G>A | |
NM_001838.4:c.11-2793G>A MANE Select | NP_001829.1:n.11-2793G>A | |
NM_001301714.2:c.-130+3665G>A | NP_001288643.1:n.-130+3665G>A |