HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148406369T>G , CM000667.2:g.148406369T>G | GRCh38 |
NC_000005.9:g.147785932T>G , CM000667.1:g.147785932T>G | GRCh37 |
NC_000005.8:g.147766125T>G | NCBI36 |
NG_033871.1:g.27435T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000340253.10:c.843T>G MANE Select | ENSP00000342023.6:p.His281Gln | |
ENST00000296701.10:c.843T>G | ENSP00000296701.6:p.His281Gln | |
ENST00000340253.9:c.843T>G | ENSP00000342023.5:p.His281Gln | |
ENST00000394370.7:c.843T>G | ENSP00000377895.3:p.His281Gln | |
ENST00000502571.1:n.252T>G | ||
ENST00000509699.6:n.908T>G | ||
ENST00000511080.5:n.222-9559T>G | ||
ENST00000513826.1:c.843T>G | ENSP00000426410.1:p.His281Gln | |
NM_001271723.1:c.843T>G | NP_001258652.1:p.His281Gln | |
NM_030793.4:c.843T>G | NP_110420.3:p.His281Gln | |
XM_005268513.1:c.843T>G | XP_005268570.1:p.His281Gln | |
XM_006714797.1:c.843T>G | XP_006714860.1:p.His281Gln | |
NM_205836.2:c.843T>G | NP_995308.1:p.His281Gln | |
XM_006714797.2:c.843T>G | XP_006714860.1:p.His281Gln | |
XM_011537684.3:c.-505T>G | XP_011535986.1:n.-505T>G | |
XM_017009899.1:c.-415T>G | XP_016865388.1:n.-415T>G | |
XM_017009900.2:c.-664T>G | XP_016865389.1:n.-664T>G | |
XM_017009901.2:c.-415T>G | XP_016865390.1:n.-415T>G | |
XM_017009902.2:c.-505T>G | XP_016865391.1:n.-505T>G | |
XM_024446223.1:c.843T>G | XP_024301991.1:p.His281Gln | |
XR_001742284.1:n.989T>G | ||
NM_030793.5:c.843T>G | NP_110420.3:p.His281Gln | |
NM_205836.3:c.843T>G MANE Select | NP_995308.1:p.His281Gln | |
NM_001271723.2:c.843T>G | NP_001258652.1:p.His281Gln |