HGVS | Genome Assembly |
---|---|
NC_000010.11:g.30313877T>G , CM000672.2:g.30313877T>G | GRCh38 |
NC_000010.10:g.30602806T>G , CM000672.1:g.30602806T>G | GRCh37 |
NC_000010.9:g.30642812T>G | NCBI36 |
NG_028096.1:g.40462A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263063.9:c.1481A>C MANE Select | ENSP00000263063.3:p.Gln494Pro | |
ENST00000263063.8:c.1481A>C | ENSP00000263063.3:p.Gln494Pro | |
ENST00000488290.5:n.3236A>C | ||
NM_018109.3:c.1481A>C | NP_060579.3:p.Gln494Pro | |
NM_018109.4:c.1481A>C MANE Select | NP_060579.3:p.Gln494Pro |