HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6710842T>G , CM000681.2:g.6710842T>G | GRCh38 |
NC_000019.9:g.6710853T>G , CM000681.1:g.6710853T>G | GRCh37 |
NC_000019.8:g.6661853T>G | NCBI36 |
NG_009557.1:g.14810A>C , LRG_27:g.14810A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695652.1:c.1360A>C | ENSP00000512083.1:p.Met454Leu | |
ENST00000695654.1:c.607A>C | ENSP00000512085.1:p.Met203Leu | |
ENST00000695655.1:c.388A>C | ENSP00000512086.1:p.Met130Leu | |
ENST00000695692.1:n.847A>C | ||
ENST00000245907.11:c.1483A>C MANE Select | ENSP00000245907.4:p.Met495Leu | |
ENST00000245907.10:c.1483A>C | ENSP00000245907.4:p.Met495Leu | |
ENST00000600763.1:n.116A>C | ||
NM_000064.3:c.1483A>C | NP_000055.2:p.Met495Leu | |
NM_000064.4:c.1483A>C MANE Select | NP_000055.2:p.Met495Leu |