HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12833698G>C , CM000686.2:g.12833698G>C | GRCh38 |
NC_000024.9:g.14945624G>C , CM000686.1:g.14945624G>C | GRCh37 |
NC_000024.8:g.13455018G>C | NCBI36 |
NG_008311.1:g.137465G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000651177.1:c.5032G>C | ENSP00000498372.1:p.Glu1678Gln | |
ENST00000338981.7:c.5032G>C MANE Select | ENSP00000342812.3:p.Glu1678Gln | |
ENST00000426564.6:n.5044G>C | ||
NM_004654.3:c.5032G>C | NP_004645.2:p.Glu1678Gln | |
XM_011531469.1:c.5032G>C | XP_011529771.1:p.Glu1678Gln | |
XM_011531470.1:c.4798G>C | XP_011529772.1:p.Glu1600Gln | |
XM_017030078.2:c.5047G>C | XP_016885567.1:p.Glu1683Gln | |
NM_004654.4:c.5032G>C MANE Select | NP_004645.2:p.Glu1678Gln |