HGVS | Genome Assembly |
---|---|
NC_000005.10:g.45461983C>G , CM000667.2:g.45461983C>G | GRCh38 |
NC_000005.9:g.45462085C>G , CM000667.1:g.45462085C>G | GRCh37 |
NC_000005.8:g.45497842C>G | NCBI36 |
NG_042183.1:g.239136G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303230.6:c.874G>C MANE Select | ENSP00000307342.4:p.Ala292Pro | |
ENST00000637305.1:n.37G>C | ||
ENST00000673735.1:c.874G>C | ENSP00000501107.1:p.Ala292Pro | |
ENST00000303230.5:c.874G>C | ENSP00000307342.4:p.Ala292Pro | |
NM_021072.3:c.874G>C | NP_066550.2:p.Ala292Pro | |
NM_021072.4:c.874G>C MANE Select | NP_066550.2:p.Ala292Pro |