HGVS | Genome Assembly |
---|---|
NC_000024.10:g.20759964G>C , CM000686.2:g.20759964G>C | GRCh38 |
NC_000024.9:g.22921850G>C , CM000686.1:g.22921850G>C | GRCh37 |
NC_000024.8:g.21331238G>C | NCBI36 |
NG_032924.1:g.8897G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000629237.2:c.178G>C MANE Select | ENSP00000486252.1:p.Glu60Gln | |
ENST00000629237.1:c.178G>C | ENSP00000486252.1:p.Glu60Gln | |
NM_001039567.2:c.178G>C | NP_001034656.1:p.Glu60Gln | |
XM_011531423.1:c.127G>C | XP_011529725.1:p.Glu43Gln | |
NM_001039567.3:c.178G>C MANE Select | NP_001034656.1:p.Glu60Gln |