HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189058818C>G , CM000664.2:g.189058818C>G | GRCh38 |
NC_000002.11:g.189923544C>G , CM000664.1:g.189923544C>G | GRCh37 |
NC_000002.10:g.189631789C>G | NCBI36 |
NG_011799.1:g.126062G>C | |
NG_011799.2:g.126062G>C | |
NG_011799.3:g.171484G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.2130+31G>C MANE Select | ENSP00000364000.3:n.2130+31G>C | |
ENST00000374866.7:c.2130+31G>C | ENSP00000364000.3:n.2130+31G>C | |
ENST00000470524.2:n.236+31G>C | ||
ENST00000618828.1:c.969+31G>C | ENSP00000482184.1:n.969+31G>C | |
NM_000393.3:c.2130+31G>C | NP_000384.2:n.2130+31G>C | |
XM_011510573.1:c.1992+31G>C | XP_011508875.1:n.1992+31G>C | |
NM_000393.4:c.2130+31G>C | NP_000384.2:n.2130+31G>C | |
XM_011510573.3:c.1992+31G>C | XP_011508875.1:n.1992+31G>C | |
NM_000393.5:c.2130+31G>C MANE Select | NP_000384.2:n.2130+31G>C |