HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94043409C>G , CM000663.2:g.94043409C>G | GRCh38 |
NC_000001.10:g.94508965C>G , CM000663.1:g.94508965C>G | GRCh37 |
NC_000001.9:g.94281553C>G | NCBI36 |
NG_009073.1:g.82741G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.3117G>C MANE Select | ENSP00000359245.3:p.Gln1039His | |
ENST00000370225.3:c.3117G>C | ENSP00000359245.3:p.Gln1039His | |
ENST00000536513.5:c.-64-3320G>C | ENSP00000439707.2:n.-64-3320G>C | |
NM_000350.2:c.3117G>C | NP_000341.2:p.Gln1039His | |
NM_000350.3:c.3117G>C MANE Select | NP_000341.2:p.Gln1039His |