HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218881855T>G , CM000664.2:g.218881855T>G | GRCh38 |
NC_000002.11:g.219746577T>G , CM000664.1:g.219746577T>G | GRCh37 |
NC_000002.10:g.219454821T>G | NCBI36 |
NG_012179.1:g.6323T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258411.8:c.114-306T>G MANE Select | ENSP00000258411.3:n.114-306T>G | |
ENST00000258411.7:c.114-306T>G | ENSP00000258411.3:n.114-306T>G | |
NM_025216.2:c.114-306T>G | NP_079492.2:n.114-306T>G | |
XM_011511928.1:c.63-306T>G | XP_011510230.1:n.63-306T>G | |
XM_011511929.1:c.18-306T>G | XP_011510231.1:n.18-306T>G | |
XM_011511930.1:c.114-306T>G | XP_011510232.1:n.114-306T>G | |
XM_011511929.2:c.18-306T>G | XP_011510231.1:n.18-306T>G | |
NM_025216.3:c.114-306T>G MANE Select | NP_079492.2:n.114-306T>G |