HGVS | Genome Assembly |
---|---|
NC_000003.12:g.165046843A>G , CM000665.2:g.165046843A>G | GRCh38 |
NC_000003.11:g.164764631A>G , CM000665.1:g.164764631A>G | GRCh37 |
NC_000003.10:g.166247325A>G | NCBI36 |
NG_017043.1:g.36653T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264382.8:c.1885T>C MANE Select | ENSP00000264382.3:p.Leu629= | |
ENST00000264382.7:c.1885T>C | ENSP00000264382.3:p.Leu629= | |
NM_001041.3:c.1885T>C | NP_001032.2:p.Leu629= | |
XM_011513078.1:c.1786T>C | XP_011511380.1:p.Leu596= | |
XM_011513078.2:c.1786T>C | XP_011511380.1:p.Leu596= | |
NM_001041.4:c.1885T>C MANE Select | NP_001032.2:p.Leu629= |