HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713198A= , CM000681.2:g.6713198A= | GRCh38 |
NC_000019.9:g.6713209A= , CM000681.1:g.6713209A= | GRCh37 |
NC_000019.8:g.6664209A= | NCBI36 |
NG_009557.1:g.12454T= , LRG_27:g.12454T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.871T= | ENSP00000512083.1:p.Leu291= | |
ENST00000695654.1:c.118T= | ENSP00000512085.1:p.Leu40= | |
ENST00000695692.1:n.318T= | ||
ENST00000245907.11:c.994T= MANE Select | ENSP00000245907.4:p.Leu332= | |
ENST00000245907.10:c.994T= | ENSP00000245907.4:p.Leu332= | |
ENST00000594270.5:n.118T= | ||
ENST00000595577.1:n.498T= | ||
ENST00000597442.5:n.244T= | ||
NM_000064.3:c.994T= | NP_000055.2:p.Leu332= | |
NM_000064.4:c.994T= MANE Select | NP_000055.2:p.Leu332= |