HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153740648G>C , CM000685.2:g.153740648G>C | GRCh38 |
NC_000023.10:g.153006102G>C , CM000685.1:g.153006102G>C | GRCh37 |
NC_000023.9:g.152659296G>C | NCBI36 |
NG_009022.2:g.20781G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218104.6:c.1709G>C MANE Select | ENSP00000218104.3:p.Gly570Ala | |
ENST00000218104.5:c.1709G>C | ENSP00000218104.3:p.Gly570Ala | |
NM_000033.3:c.1709G>C | NP_000024.2:p.Gly570Ala | |
XR_938507.1:n.2181G>C | ||
XR_938507.2:n.2181G>C | ||
NM_000033.4:c.1709G>C MANE Select | NP_000024.2:p.Gly570Ala |