HGVS | Genome Assembly |
---|---|
NC_000018.10:g.60372108A>C , CM000680.2:g.60372108A>C | GRCh38 |
NC_000018.9:g.58039341A>C , CM000680.1:g.58039341A>C | GRCh37 |
NC_000018.8:g.56190321A>C | NCBI36 |
NG_016441.1:g.5661T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000299766.5:c.242T>G MANE Select | ENSP00000299766.3:p.Phe81Cys | |
ENST00000299766.4:c.242T>G | ENSP00000299766.3:p.Phe81Cys | |
NM_005912.2:c.242T>G | NP_005903.2:p.Phe81Cys | |
NM_005912.3:c.242T>G MANE Select | NP_005903.2:p.Phe81Cys |