HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73322646G= , CM000677.2:g.73322646G= | GRCh38 |
NC_000015.9:g.73614987G= , CM000677.1:g.73614987G= | GRCh37 |
NC_000015.8:g.71402040G= | NCBI36 |
NG_009063.1:g.51619C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.3447C= MANE Select | ENSP00000261917.3:p.His1149= | |
ENST00000261917.3:c.3447C= | ENSP00000261917.3:p.His1149= | |
NM_005477.2:c.3447C= | NP_005468.1:p.His1149= | |
XM_011521148.1:c.2229C= | XP_011519450.1:p.His743= | |
XM_011521148.2:c.2229C= | XP_011519450.1:p.His743= | |
NM_005477.3:c.3447C= MANE Select | NP_005468.1:p.His1149= |