HGVS | Genome Assembly |
---|---|
NC_000014.9:g.91272657G>C , CM000676.2:g.91272657G>C | GRCh38 |
NC_000014.8:g.91739001G>C , CM000676.1:g.91739001G>C | GRCh37 |
NC_000014.7:g.90808754G>C | NCBI36 |
NG_033118.1:g.150188C>G | |
NG_033118.2:g.150188C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389857.11:c.6055C>G MANE Select | ENSP00000374507.6:p.Gln2019Glu | |
ENST00000331194.8:c.1489C>G | ENSP00000330332.8:p.Gln497Glu | |
ENST00000389857.10:c.6055C>G | ENSP00000374507.6:p.Gln2019Glu | |
ENST00000556726.5:c.2283C>G | ||
NM_001080414.3:c.6055C>G | NP_001073883.2:p.Gln2019Glu | |
XM_011536796.1:c.5947C>G | XP_011535098.1:p.Gln1983Glu | |
XM_011536796.2:c.5947C>G | XP_011535098.1:p.Gln1983Glu | |
XM_017021336.1:c.3136C>G | XP_016876825.1:p.Gln1046Glu | |
NM_001080414.4:c.6055C>G MANE Select | NP_001073883.2:p.Gln2019Glu |