HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189058884C>G , CM000664.2:g.189058884C>G | GRCh38 |
NC_000002.11:g.189923610C>G , CM000664.1:g.189923610C>G | GRCh37 |
NC_000002.10:g.189631855C>G | NCBI36 |
NG_011799.1:g.125996G>C | |
NG_011799.2:g.125996G>C | |
NG_011799.3:g.171418G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000374866.9:c.2095G>C MANE Select | ENSP00000364000.3:p.Gly699Arg | |
ENST00000374866.7:c.2095G>C | ENSP00000364000.3:p.Gly699Arg | |
ENST00000470524.2:n.201G>C | ||
ENST00000618828.1:c.934G>C | ENSP00000482184.1:p.Gly312Arg | |
NM_000393.3:c.2095G>C | NP_000384.2:p.Gly699Arg | |
XM_011510573.1:c.1957G>C | XP_011508875.1:p.Gly653Arg | |
NM_000393.4:c.2095G>C | NP_000384.2:p.Gly699Arg | |
XM_011510573.3:c.1957G>C | XP_011508875.1:p.Gly653Arg | |
NM_000393.5:c.2095G>C MANE Select | NP_000384.2:p.Gly699Arg |