HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37713329G>C , CM000684.2:g.37713329G>C | GRCh38 |
NC_000022.10:g.38109336G>C , CM000684.1:g.38109336G>C | GRCh37 |
NC_000022.9:g.36439282G>C | NCBI36 |
NG_012857.1:g.21342G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.374G>C MANE Select | ENSP00000496394.1:p.Ser125Thr | |
ENST00000344404.10:c.255-2434G>C | ENSP00000340312.6:n.255-2434G>C | |
ENST00000406386.7:c.374G>C | ENSP00000384312.3:p.Ser125Thr | |
ENST00000455236.4:c.1331G>C | ENSP00000477208.1:n.1331G>C | |
ENST00000492485.5:n.391-2434G>C | ||
NM_001039141.2:c.374G>C | NP_001034230.1:p.Ser125Thr | |
NM_001039141.3:c.374G>C MANE Select | NP_001034230.1:p.Ser125Thr |