HGVS | Genome Assembly |
---|---|
NC_000010.11:g.30313831T>G , CM000672.2:g.30313831T>G | GRCh38 |
NC_000010.10:g.30602760T>G , CM000672.1:g.30602760T>G | GRCh37 |
NC_000010.9:g.30642766T>G | NCBI36 |
NG_028096.1:g.40508A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263063.9:c.1527A>C MANE Select | ENSP00000263063.3:p.Leu509Phe | |
ENST00000263063.8:c.1527A>C | ENSP00000263063.3:p.Leu509Phe | |
ENST00000488290.5:n.3282A>C | ||
NM_018109.3:c.1527A>C | NP_060579.3:p.Leu509Phe | |
NM_018109.4:c.1527A>C MANE Select | NP_060579.3:p.Leu509Phe |