HGVS | Genome Assembly |
---|---|
NC_000002.12:g.112832738C>G , CM000664.2:g.112832738C>G | GRCh38 |
NC_000002.11:g.113590315C>G , CM000664.1:g.113590315C>G | GRCh37 |
NC_000002.10:g.113306786C>G | NCBI36 |
NG_008851.1:g.9042G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263341.7:c.390G>C MANE Select | ENSP00000263341.2:p.Gln130His | |
ENST00000263341.6:c.390G>C | ENSP00000263341.2:p.Gln130His | |
ENST00000418817.5:c.390G>C | ENSP00000407219.1:p.Gln130His | |
ENST00000487639.1:n.291G>C | ||
ENST00000491056.5:n.1197G>C | ||
NM_000576.2:c.390G>C | NP_000567.1:p.Gln130His | |
XM_006712496.1:c.156G>C | XP_006712559.1:p.Gln52His | |
XM_017003988.2:c.297G>C | XP_016859477.1:p.Gln99His | |
NM_000576.3:c.390G>C MANE Select | NP_000567.1:p.Gln130His |