HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659168A>C , CM000685.2:g.136659168A>C | GRCh38 |
NC_000023.10:g.135741327A>C , CM000685.1:g.135741327A>C | GRCh37 |
NC_000023.9:g.135568993A>C | NCBI36 |
NG_007280.1:g.15992A>C , LRG_141:g.15992A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*157A>C | ENSP00000512122.1:n.*157A>C | |
ENST00000695725.1:c.*94A>C | ENSP00000512123.1:n.*94A>C | |
ENST00000695726.1:n.2507A>C | ||
ENST00000695729.1:n.3342A>C | ||
ENST00000370629.7:c.539A>C MANE Select | ENSP00000359663.2:p.Asn180Thr | |
ENST00000370628.2:c.476A>C | ENSP00000359662.2:p.Asn159Thr | |
ENST00000370629.6:c.539A>C | ENSP00000359663.2:p.Asn180Thr | |
NM_000074.2:c.539A>C , LRG_141t1:c.539A>C | NP_000065.1:p.Asn180Thr | |
NM_000074.3:c.539A>C MANE Select | NP_000065.1:p.Asn180Thr |