HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159322636G>T , CM000667.2:g.159322636G>T | GRCh38 |
NC_000005.9:g.158749644G>T , CM000667.1:g.158749644G>T | GRCh37 |
NC_000005.8:g.158682222G>T | NCBI36 |
NG_009618.1:g.12838C>A , LRG_71:g.12838C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-148-2116C>A | ENSP00000512849.1:n.-148-2116C>A | |
ENST00000696751.1:c.364+418C>A | ENSP00000512850.1:n.364+418C>A | |
ENST00000231228.3:c.365-125C>A MANE Select | ENSP00000231228.2:n.365-125C>A | |
ENST00000231228.2:c.365-125C>A | ENSP00000231228.2:n.365-125C>A | |
NM_002187.2:c.365-125C>A , LRG_71t1:c.365-125C>A | NP_002178.2:n.365-125C>A | |
XR_001742945.1:n.147+2040G>T | ||
NM_002187.3:c.365-125C>A MANE Select | NP_002178.2:n.365-125C>A |