HGVS | Genome Assembly |
---|---|
NC_000018.10:g.13884720A>T , CM000680.2:g.13884720A>T | GRCh38 |
NC_000018.9:g.13884719A>T , CM000680.1:g.13884719A>T | GRCh37 |
NC_000018.8:g.13874719A>T | NCBI36 |
NG_011819.1:g.35817T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000327606.4:c.799T>A MANE Select | ENSP00000333821.2:p.Cys267Ser | |
ENST00000327606.3:c.799T>A | ENSP00000333821.2:p.Cys267Ser | |
NM_000529.2:c.799T>A MANE Select | NP_000520.1:p.Cys267Ser | |
NM_001291911.1:c.799T>A | NP_001278840.1:p.Cys267Ser | |
XM_017025781.1:c.799T>A | XP_016881270.1:p.Cys267Ser |