HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713418T>C , CM000681.2:g.6713418T>C | GRCh38 |
NC_000019.9:g.6713429T>C , CM000681.1:g.6713429T>C | GRCh37 |
NC_000019.8:g.6664429T>C | NCBI36 |
NG_009557.1:g.12234A>G , LRG_27:g.12234A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.742A>G | ENSP00000512083.1:p.Lys248Glu | |
ENST00000695692.1:n.189A>G | ||
ENST00000245907.11:c.865A>G MANE Select | ENSP00000245907.4:p.Lys289Glu | |
ENST00000245907.10:c.865A>G | ENSP00000245907.4:p.Lys289Glu | |
ENST00000595577.1:n.369A>G | ||
ENST00000597442.5:n.115A>G | ||
NM_000064.3:c.865A>G | NP_000055.2:p.Lys289Glu | |
NM_000064.4:c.865A>G MANE Select | NP_000055.2:p.Lys289Glu |