HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659187A>T , CM000685.2:g.136659187A>T | GRCh38 |
NC_000023.10:g.135741346A>T , CM000685.1:g.135741346A>T | GRCh37 |
NC_000023.9:g.135569012A>T | NCBI36 |
NG_007280.1:g.16011A>T , LRG_141:g.16011A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*176A>T | ENSP00000512122.1:n.*176A>T | |
ENST00000695725.1:c.*113A>T | ENSP00000512123.1:n.*113A>T | |
ENST00000695726.1:n.2526A>T | ||
ENST00000695729.1:n.3361A>T | ||
ENST00000370629.7:c.558A>T MANE Select | ENSP00000359663.2:p.Gln186His | |
ENST00000370628.2:c.495A>T | ENSP00000359662.2:p.Gln165His | |
ENST00000370629.6:c.558A>T | ENSP00000359663.2:p.Gln186His | |
NM_000074.2:c.558A>T , LRG_141t1:c.558A>T | NP_000065.1:p.Gln186His | |
NM_000074.3:c.558A>T MANE Select | NP_000065.1:p.Gln186His |