HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37715931G>C , CM000684.2:g.37715931G>C | GRCh38 |
NC_000022.10:g.38111938G>C , CM000684.1:g.38111938G>C | GRCh37 |
NC_000022.9:g.36441884G>C | NCBI36 |
NG_012857.1:g.23944G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.625G>C MANE Select | ENSP00000496394.1:p.Glu209Gln | |
ENST00000344404.10:c.*108G>C | ENSP00000340312.6:n.*108G>C | |
ENST00000406386.7:c.625G>C | ENSP00000384312.3:p.Glu209Gln | |
ENST00000455236.4:c.1582G>C | ENSP00000477208.1:n.1582G>C | |
ENST00000492485.5:n.559G>C | ||
NM_001039141.2:c.625G>C | NP_001034230.1:p.Glu209Gln | |
NM_001039141.3:c.625G>C MANE Select | NP_001034230.1:p.Glu209Gln |