HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218814242A>G , CM000664.2:g.218814242A>G | GRCh38 |
NC_000002.11:g.219678965A>G , CM000664.1:g.219678965A>G | GRCh37 |
NC_000002.10:g.219387209A>G | NCBI36 |
NG_007959.1:g.37494A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258415.9:c.1184+55A>G MANE Select | ENSP00000258415.4:n.1184+55A>G | |
ENST00000258415.8:c.1184+55A>G | ENSP00000258415.4:n.1184+55A>G | |
ENST00000494263.5:n.1673A>G | ||
NM_000784.3:c.1184+55A>G | NP_000775.1:n.1184+55A>G | |
XM_017003488.2:c.764+55A>G | XP_016858977.1:n.764+55A>G | |
NM_000784.4:c.1184+55A>G MANE Select | NP_000775.1:n.1184+55A>G |