HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659371A>C , CM000685.2:g.136659371A>C | GRCh38 |
NC_000023.10:g.135741530A>C , CM000685.1:g.135741530A>C | GRCh37 |
NC_000023.9:g.135569196A>C | NCBI36 |
NG_007280.1:g.16195A>C , LRG_141:g.16195A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*360A>C | ENSP00000512122.1:n.*360A>C | |
ENST00000695725.1:c.*297A>C | ENSP00000512123.1:n.*297A>C | |
ENST00000695726.1:n.2710A>C | ||
ENST00000695729.1:n.3545A>C | ||
ENST00000370629.7:c.742A>C MANE Select | ENSP00000359663.2:p.Ser248Arg | |
ENST00000370628.2:c.679A>C | ENSP00000359662.2:p.Ser227Arg | |
ENST00000370629.6:c.742A>C | ENSP00000359663.2:p.Ser248Arg | |
NM_000074.2:c.742A>C , LRG_141t1:c.742A>C | NP_000065.1:p.Ser248Arg | |
NM_000074.3:c.742A>C MANE Select | NP_000065.1:p.Ser248Arg |