HGVS | Genome Assembly |
---|---|
NC_000002.12:g.44942143C>G , CM000664.2:g.44942143C>G | GRCh38 |
NC_000002.11:g.45169282C>G , CM000664.1:g.45169282C>G | GRCh37 |
NC_000002.10:g.45022786C>G | NCBI36 |
NG_016222.1:g.5246C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260653.5:c.39C>G MANE Select | ENSP00000260653.3:p.His13Gln | |
ENST00000260653.4:c.39C>G | ENSP00000260653.3:p.His13Gln | |
NM_005413.3:c.39C>G | NP_005404.1:p.His13Gln | |
XM_011533042.1:c.39C>G | XP_011531344.1:p.His13Gln | |
NM_005413.4:c.39C>G MANE Select | NP_005404.1:p.His13Gln |