HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37715929A>C , CM000684.2:g.37715929A>C | GRCh38 |
NC_000022.10:g.38111936A>C , CM000684.1:g.38111936A>C | GRCh37 |
NC_000022.9:g.36441882A>C | NCBI36 |
NG_012857.1:g.23942A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.623A>C MANE Select | ENSP00000496394.1:p.Lys208Thr | |
ENST00000344404.10:c.*106A>C | ENSP00000340312.6:n.*106A>C | |
ENST00000406386.7:c.623A>C | ENSP00000384312.3:p.Lys208Thr | |
ENST00000455236.4:c.1580A>C | ENSP00000477208.1:n.1580A>C | |
ENST00000492485.5:n.557A>C | ||
NM_001039141.2:c.623A>C | NP_001034230.1:p.Lys208Thr | |
NM_001039141.3:c.623A>C MANE Select | NP_001034230.1:p.Lys208Thr |