HGVS | Genome Assembly |
---|---|
NC_000003.12:g.165069053A>G , CM000665.2:g.165069053A>G | GRCh38 |
NC_000003.11:g.164786841A>G , CM000665.1:g.164786841A>G | GRCh37 |
NC_000003.10:g.166269535A>G | NCBI36 |
NG_017043.1:g.14443T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264382.8:c.373+25T>C MANE Select | ENSP00000264382.3:n.373+25T>C | |
ENST00000264382.7:c.373+25T>C | ENSP00000264382.3:n.373+25T>C | |
ENST00000476593.1:c.*248+25T>C | ENSP00000419450.1:n.*248+25T>C | |
NM_001041.3:c.373+25T>C | NP_001032.2:n.373+25T>C | |
XM_011513078.1:c.274+25T>C | XP_011511380.1:n.274+25T>C | |
XM_011513078.2:c.274+25T>C | XP_011511380.1:n.274+25T>C | |
NM_001041.4:c.373+25T>C MANE Select | NP_001032.2:n.373+25T>C |