HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189058881C>G , CM000664.2:g.189058881C>G | GRCh38 |
NC_000002.11:g.189923607C>G , CM000664.1:g.189923607C>G | GRCh37 |
NC_000002.10:g.189631852C>G | NCBI36 |
NG_011799.1:g.125999G>C | |
NG_011799.2:g.125999G>C | |
NG_011799.3:g.171421G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000374866.9:c.2098G>C MANE Select | ENSP00000364000.3:p.Asp700His | |
ENST00000374866.7:c.2098G>C | ENSP00000364000.3:p.Asp700His | |
ENST00000470524.2:n.204G>C | ||
ENST00000618828.1:c.937G>C | ENSP00000482184.1:p.Asp313His | |
NM_000393.3:c.2098G>C | NP_000384.2:p.Asp700His | |
XM_011510573.1:c.1960G>C | XP_011508875.1:p.Asp654His | |
NM_000393.4:c.2098G>C | NP_000384.2:p.Asp700His | |
XM_011510573.3:c.1960G>C | XP_011508875.1:p.Asp654His | |
NM_000393.5:c.2098G>C MANE Select | NP_000384.2:p.Asp700His |