HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153736217C>G , CM000685.2:g.153736217C>G | GRCh38 |
NC_000023.10:g.153001671C>G , CM000685.1:g.153001671C>G | GRCh37 |
NC_000023.9:g.152654865C>G | NCBI36 |
NG_009022.2:g.16350C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218104.6:c.1187C>G MANE Select | ENSP00000218104.3:p.Ala396Gly | |
ENST00000218104.5:c.1187C>G | ENSP00000218104.3:p.Ala396Gly | |
ENST00000443684.2:n.190C>G | ||
NM_000033.3:c.1187C>G | NP_000024.2:p.Ala396Gly | |
XR_938507.1:n.1603C>G | ||
XR_938507.2:n.1603C>G | ||
NM_000033.4:c.1187C>G MANE Select | NP_000024.2:p.Ala396Gly |