HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94021365G>A , CM000663.2:g.94021365G>A | GRCh38 |
NC_000001.10:g.94486921G>A , CM000663.1:g.94486921G>A | GRCh37 |
NC_000001.9:g.94259509G>A | NCBI36 |
NG_009073.1:g.104785C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.4893C>T MANE Select | ENSP00000359245.3:p.Leu1631= | |
ENST00000370225.3:c.4893C>T | ENSP00000359245.3:p.Leu1631= | |
ENST00000460514.1:n.387C>T | ||
ENST00000470771.1:n.3C>T | ||
ENST00000536513.5:c.1269C>T | ENSP00000439707.2:p.Leu423= | |
NM_000350.2:c.4893C>T | NP_000341.2:p.Leu1631= | |
NM_000350.3:c.4893C>T MANE Select | NP_000341.2:p.Leu1631= |