HGVS | Genome Assembly |
---|---|
NC_000005.10:g.146340182T>C , CM000667.2:g.146340182T>C | GRCh38 |
NC_000005.9:g.145719745T>C , CM000667.1:g.145719745T>C | GRCh37 |
NC_000005.8:g.145699938T>C | NCBI36 |
NG_011885.1:g.6159T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646991.2:c.755T>C MANE Select | ENSP00000495718.1:p.Leu252Ser | |
ENST00000230732.4:c.755T>C | ENSP00000230732.4:p.Leu252Ser | |
NM_002700.2:c.755T>C | NP_002691.1:p.Leu252Ser | |
NM_002700.3:c.755T>C MANE Select | NP_002691.1:p.Leu252Ser |