HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94060683T>C , CM000663.2:g.94060683T>C | GRCh38 |
NC_000001.10:g.94526239T>C , CM000663.1:g.94526239T>C | GRCh37 |
NC_000001.9:g.94298827T>C | NCBI36 |
NG_009073.1:g.65467A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.2014A>G MANE Select | ENSP00000359245.3:p.Lys672Glu | |
ENST00000649773.1:c.2014A>G | ENSP00000496882.1:p.Lys672Glu | |
ENST00000370225.3:c.2014A>G | ENSP00000359245.3:p.Lys672Glu | |
ENST00000472033.1:n.134A>G | ||
ENST00000536513.5:c.-65+2491A>G | ENSP00000439707.2:n.-65+2491A>G | |
NM_000350.2:c.2014A>G | NP_000341.2:p.Lys672Glu | |
NM_000350.3:c.2014A>G MANE Select | NP_000341.2:p.Lys672Glu |