HGVS | Genome Assembly |
---|---|
NC_000003.12:g.165068948C>T , CM000665.2:g.165068948C>T | GRCh38 |
NC_000003.11:g.164786736C>T , CM000665.1:g.164786736C>T | GRCh37 |
NC_000003.10:g.166269430C>T | NCBI36 |
NG_017043.1:g.14548G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264382.8:c.374-117G>A MANE Select | ENSP00000264382.3:n.374-117G>A | |
ENST00000264382.7:c.374-117G>A | ENSP00000264382.3:n.374-117G>A | |
ENST00000476593.1:c.*249-117G>A | ENSP00000419450.1:n.*249-117G>A | |
NM_001041.3:c.374-117G>A | NP_001032.2:n.374-117G>A | |
XM_011513078.1:c.275-117G>A | XP_011511380.1:n.275-117G>A | |
XM_011513078.2:c.275-117G>A | XP_011511380.1:n.275-117G>A | |
NM_001041.4:c.374-117G>A MANE Select | NP_001032.2:n.374-117G>A |