HGVS | Genome Assembly |
---|---|
NC_000024.10:g.20759985C>G , CM000686.2:g.20759985C>G | GRCh38 |
NC_000024.9:g.22921871C>G , CM000686.1:g.22921871C>G | GRCh37 |
NC_000024.8:g.21331259C>G | NCBI36 |
NG_032924.1:g.8918C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000629237.2:c.199C>G MANE Select | ENSP00000486252.1:p.Gln67Glu | |
ENST00000629237.1:c.199C>G | ENSP00000486252.1:p.Gln67Glu | |
NM_001039567.2:c.199C>G | NP_001034656.1:p.Gln67Glu | |
XM_011531423.1:c.148C>G | XP_011529725.1:p.Gln50Glu | |
NM_001039567.3:c.199C>G MANE Select | NP_001034656.1:p.Gln67Glu |