HGVS | Genome Assembly |
---|---|
NC_000006.12:g.160247262C>G , CM000668.2:g.160247262C>G | GRCh38 |
NC_000006.11:g.160668294C>G , CM000668.1:g.160668294C>G | GRCh37 |
NC_000006.10:g.160588284C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366953.8:c.879G>C MANE Select | ENSP00000355920.3:p.Gln293His | |
ENST00000366952.1:c.816G>C | ENSP00000355919.1:p.Gln272His | |
ENST00000366953.7:c.879G>C | ENSP00000355920.3:p.Gln293His | |
ENST00000491092.1:n.776G>C | ||
NM_003058.3:c.879G>C | NP_003049.2:p.Gln293His | |
NM_003058.4:c.879G>C MANE Select | NP_003049.2:p.Gln293His |