HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6709715A>T , CM000681.2:g.6709715A>T | GRCh38 |
NC_000019.9:g.6709726A>T , CM000681.1:g.6709726A>T | GRCh37 |
NC_000019.8:g.6660726A>T | NCBI36 |
NG_009557.1:g.15937T>A , LRG_27:g.15937T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.1691T>A | ENSP00000512083.1:p.Leu564Gln | |
ENST00000695654.1:c.938T>A | ENSP00000512085.1:p.Leu313Gln | |
ENST00000695655.1:c.755T>A | ENSP00000512086.1:n.755T>A | |
ENST00000695692.1:n.1178T>A | ||
ENST00000245907.11:c.1814T>A MANE Select | ENSP00000245907.4:p.Leu605Gln | |
ENST00000245907.10:c.1814T>A | ENSP00000245907.4:p.Leu605Gln | |
NM_000064.3:c.1814T>A | NP_000055.2:p.Leu605Gln | |
NM_000064.4:c.1814T>A MANE Select | NP_000055.2:p.Leu605Gln |