HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659160C>T , CM000685.2:g.136659160C>T | GRCh38 |
NC_000023.10:g.135741319C>T , CM000685.1:g.135741319C>T | GRCh37 |
NC_000023.9:g.135568985C>T | NCBI36 |
NG_007280.1:g.15984C>T , LRG_141:g.15984C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*149C>T | ENSP00000512122.1:n.*149C>T | |
ENST00000695725.1:c.*86C>T | ENSP00000512123.1:n.*86C>T | |
ENST00000695726.1:n.2499C>T | ||
ENST00000695729.1:n.3334C>T | ||
ENST00000370629.7:c.531C>T MANE Select | ENSP00000359663.2:p.Phe177= | |
ENST00000370628.2:c.468C>T | ENSP00000359662.2:p.Phe156= | |
ENST00000370629.6:c.531C>T | ENSP00000359663.2:p.Phe177= | |
NM_000074.2:c.531C>T , LRG_141t1:c.531C>T | NP_000065.1:p.Phe177= | |
NM_000074.3:c.531C>T MANE Select | NP_000065.1:p.Phe177= |