HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022712C>G , CM000663.2:g.17022712C>G | GRCh38 |
NC_000001.10:g.17349207C>G , CM000663.1:g.17349207C>G | GRCh37 |
NC_000001.9:g.17221794C>G | NCBI36 |
NG_012340.1:g.36459G>C , LRG_316:g.36459G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.490G>C | ENSP00000481376.2:p.Asp164His | |
ENST00000491274.6:c.619G>C | ENSP00000480482.2:p.Asp207His | |
ENST00000375499.8:c.661G>C MANE Select | ENSP00000364649.3:p.Asp221His | |
ENST00000375499.7:c.661G>C | ENSP00000364649.3:p.Asp221His | |
ENST00000475049.5:n.86G>C | ||
ENST00000485092.5:n.325G>C | ||
ENST00000485515.5:n.595G>C | ||
NM_003000.2:c.661G>C , LRG_316t1:c.661G>C | NP_002991.2:p.Asp221His | |
NM_003000.3:c.661G>C MANE Select | NP_002991.2:p.Asp221His |