HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40561730A>G , CM000679.2:g.40561730A>G | GRCh38 |
NC_000017.10:g.38717982A>G , CM000679.1:g.38717982A>G | GRCh37 |
NC_000017.9:g.35971508A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000246657.2:c.11-2788T>C MANE Select | ENSP00000246657.2:n.11-2788T>C | |
ENST00000578085.1:c.-130+3670T>C | ENSP00000463075.1:n.-130+3670T>C | |
NM_001301714.1:c.-130+3670T>C | NP_001288643.1:n.-130+3670T>C | |
NM_001838.3:c.11-2788T>C | NP_001829.1:n.11-2788T>C | |
NM_001838.4:c.11-2788T>C MANE Select | NP_001829.1:n.11-2788T>C | |
NM_001301714.2:c.-130+3670T>C | NP_001288643.1:n.-130+3670T>C |