HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713503G>A , CM000681.2:g.6713503G>A | GRCh38 |
NC_000019.9:g.6713514G>A , CM000681.1:g.6713514G>A | GRCh37 |
NC_000019.8:g.6664514G>A | NCBI36 |
NG_009557.1:g.12149C>T , LRG_27:g.12149C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.657C>T | ENSP00000512083.1:p.Leu219= | |
ENST00000695692.1:n.104C>T | ||
ENST00000245907.11:c.780C>T MANE Select | ENSP00000245907.4:p.Leu260= | |
ENST00000245907.10:c.780C>T | ENSP00000245907.4:p.Leu260= | |
ENST00000595577.1:n.284C>T | ||
ENST00000597442.5:n.30C>T | ||
NM_000064.3:c.780C>T | NP_000055.2:p.Leu260= | |
NM_000064.4:c.780C>T MANE Select | NP_000055.2:p.Leu260= |