HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116832826T>G , CM000673.2:g.116832826T>G | GRCh38 |
NC_000011.9:g.116703542T>G , CM000673.1:g.116703542T>G | GRCh37 |
NC_000011.8:g.116208752T>G | NCBI36 |
NG_008949.1:g.7919T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227667.8:c.242T>G MANE Select | ENSP00000227667.2:p.Phe81Cys | |
ENST00000227667.7:c.242T>G | ENSP00000227667.2:p.Phe81Cys | |
ENST00000375345.3:c.296T>G | ENSP00000364494.1:p.Phe99Cys | |
ENST00000630701.1:c.296T>G | ENSP00000486182.1:p.Phe99Cys | |
NM_000040.1:c.242T>G | NP_000031.1:p.Phe81Cys | |
NM_000040.2:c.242T>G | NP_000031.1:p.Phe81Cys | |
NM_000040.3:c.242T>G MANE Select | NP_000031.1:p.Phe81Cys |