HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154997024G= , CM000685.2:g.154997024G= | GRCh38 |
NC_000023.10:g.154225299G= , CM000685.1:g.154225299G= | GRCh37 |
NC_000023.9:g.153878493G= | NCBI36 |
NG_011403.1:g.30700C= | |
NG_011403.2:g.30700C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.337C= MANE Select | ENSP00000353393.4:p.His113= | |
ENST00000647125.1:c.*123C= | ENSP00000496062.1:n.*123C= | |
ENST00000360256.8:c.337C= | ENSP00000353393.4:p.His113= | |
ENST00000423959.5:c.232C= | ENSP00000409446.1:p.His78= | |
ENST00000453950.1:c.319C= | ENSP00000389153.1:p.His107= | |
NM_000132.3:c.337C= | NP_000123.1:p.His113= | |
XM_011531126.1:c.232C= | XP_011529428.1:p.His78= | |
NM_000132.4:c.337C= MANE Select | NP_000123.1:p.His113= |