HGVS | Genome Assembly |
---|---|
NC_000011.10:g.17553482G>C , CM000673.2:g.17553482G>C | GRCh38 |
NC_000011.9:g.17575029G>C , CM000673.1:g.17575029G>C | GRCh37 |
NC_000011.8:g.17531605G>C | NCBI36 |
NG_033191.1:g.11110G>C | |
NG_033191.2:g.11110G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000399391.7:c.539G>C | ENSP00000382323.2:p.Gly180Ala | |
ENST00000399397.6:c.503G>C MANE Select | ENSP00000382329.2:p.Gly168Ala | |
ENST00000399391.6:c.539G>C | ENSP00000382323.2:p.Gly180Ala | |
ENST00000399397.5:c.503G>C | ENSP00000382329.2:p.Gly168Ala | |
ENST00000498332.5:n.409G>C | ||
NM_001277269.1:c.539G>C | NP_001264198.1:p.Gly180Ala | |
NM_001292063.1:c.503G>C | NP_001278992.1:p.Gly168Ala | |
NM_001277269.2:c.539G>C | NP_001264198.1:p.Gly180Ala | |
NM_001292063.2:c.503G>C MANE Select | NP_001278992.1:p.Gly168Ala |