HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11965580T>G , CM000663.2:g.11965580T>G | GRCh38 |
NC_000001.10:g.12025637T>G , CM000663.1:g.12025637T>G | GRCh37 |
NC_000001.9:g.11948224T>G | NCBI36 |
NG_008159.1:g.35892T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000196061.5:c.1571T>G MANE Select | ENSP00000196061.4:p.Phe524Cys | |
ENST00000196061.4:c.1571T>G | ENSP00000196061.4:p.Phe524Cys | |
ENST00000470133.1:n.185T>G | ||
ENST00000491536.5:n.199T>G | ||
NM_000302.3:c.1571T>G | NP_000293.2:p.Phe524Cys | |
NM_001316320.1:c.1712T>G | NP_001303249.1:p.Phe571Cys | |
XM_011541594.1:c.1652T>G | XP_011539896.1:p.Phe551Cys | |
XM_024447707.1:c.905T>G | XP_024303475.1:p.Phe302Cys | |
NM_000302.4:c.1571T>G MANE Select | NP_000293.2:p.Phe524Cys | |
NM_001316320.2:c.1712T>G | NP_001303249.1:p.Phe571Cys |