HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713256C>G , CM000681.2:g.6713256C>G | GRCh38 |
NC_000019.9:g.6713267C>G , CM000681.1:g.6713267C>G | GRCh37 |
NC_000019.8:g.6664267C>G | NCBI36 |
NG_009557.1:g.12396G>C , LRG_27:g.12396G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695652.1:c.813G>C | ENSP00000512083.1:p.Gln271His | |
ENST00000695654.1:c.60G>C | ENSP00000512085.1:p.Gln20His | |
ENST00000695692.1:n.260G>C | ||
ENST00000245907.11:c.936G>C MANE Select | ENSP00000245907.4:p.Gln312His | |
ENST00000245907.10:c.936G>C | ENSP00000245907.4:p.Gln312His | |
ENST00000594270.5:n.60G>C | ||
ENST00000595577.1:n.440G>C | ||
ENST00000597442.5:n.186G>C | ||
NM_000064.3:c.936G>C | NP_000055.2:p.Gln312His | |
NM_000064.4:c.936G>C MANE Select | NP_000055.2:p.Gln312His |