HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659304G>C , CM000685.2:g.136659304G>C | GRCh38 |
NC_000023.10:g.135741463G>C , CM000685.1:g.135741463G>C | GRCh37 |
NC_000023.9:g.135569129G>C | NCBI36 |
NG_007280.1:g.16128G>C , LRG_141:g.16128G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*293G>C | ENSP00000512122.1:n.*293G>C | |
ENST00000695725.1:c.*230G>C | ENSP00000512123.1:n.*230G>C | |
ENST00000695726.1:n.2643G>C | ||
ENST00000695729.1:n.3478G>C | ||
ENST00000370629.7:c.675G>C MANE Select | ENSP00000359663.2:p.Leu225Phe | |
ENST00000370628.2:c.612G>C | ENSP00000359662.2:p.Leu204Phe | |
ENST00000370629.6:c.675G>C | ENSP00000359663.2:p.Leu225Phe | |
NM_000074.2:c.675G>C , LRG_141t1:c.675G>C | NP_000065.1:p.Leu225Phe | |
NM_000074.3:c.675G>C MANE Select | NP_000065.1:p.Leu225Phe |