HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713426T>C , CM000681.2:g.6713426T>C | GRCh38 |
NC_000019.9:g.6713437T>C , CM000681.1:g.6713437T>C | GRCh37 |
NC_000019.8:g.6664437T>C | NCBI36 |
NG_009557.1:g.12226A>G , LRG_27:g.12226A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.734A>G | ENSP00000512083.1:p.Glu245Gly | |
ENST00000695692.1:n.181A>G | ||
ENST00000245907.11:c.857A>G MANE Select | ENSP00000245907.4:p.Glu286Gly | |
ENST00000245907.10:c.857A>G | ENSP00000245907.4:p.Glu286Gly | |
ENST00000595577.1:n.361A>G | ||
ENST00000597442.5:n.107A>G | ||
NM_000064.3:c.857A>G | NP_000055.2:p.Glu286Gly | |
NM_000064.4:c.857A>G MANE Select | NP_000055.2:p.Glu286Gly |