HGVS | Genome Assembly |
---|---|
NC_000002.12:g.210195229G>C , CM000664.2:g.210195229G>C | GRCh38 |
NC_000002.11:g.211059953G>C , CM000664.1:g.211059953G>C | GRCh37 |
NC_000002.10:g.210768198G>C | NCBI36 |
NG_008002.1:g.35263C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000233710.4:c.1094C>G MANE Select | ENSP00000233710.3:p.Ala365Gly | |
ENST00000652584.1:n.1322C>G | ||
ENST00000233710.3:c.1094C>G | ENSP00000233710.3:p.Ala365Gly | |
NM_001608.3:c.1094C>G | NP_001599.1:p.Ala365Gly | |
XM_005246517.3:c.1031C>G | XP_005246574.1:p.Ala344Gly | |
XM_005246517.4:c.1031C>G | XP_005246574.1:p.Ala344Gly | |
XM_017003955.1:c.671C>G | XP_016859444.1:p.Ala224Gly | |
NM_001608.4:c.1094C>G MANE Select | NP_001599.1:p.Ala365Gly |