HGVS | Genome Assembly |
---|---|
NC_000010.11:g.30313675T>C , CM000672.2:g.30313675T>C | GRCh38 |
NC_000010.10:g.30602604T>C , CM000672.1:g.30602604T>C | GRCh37 |
NC_000010.9:g.30642610T>C | NCBI36 |
NG_028096.1:g.40664A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263063.9:c.1683A>G MANE Select | ENSP00000263063.3:p.Leu561= | |
ENST00000263063.8:c.1683A>G | ENSP00000263063.3:p.Leu561= | |
ENST00000488290.5:n.3438A>G | ||
NM_018109.3:c.1683A>G | NP_060579.3:p.Leu561= | |
NM_018109.4:c.1683A>G MANE Select | NP_060579.3:p.Leu561= |