HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153743067C>G , CM000685.2:g.153743067C>G | GRCh38 |
NC_000023.10:g.153008521C>G , CM000685.1:g.153008521C>G | GRCh37 |
NC_000023.9:g.152661715C>G | NCBI36 |
NG_009022.2:g.23200C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218104.6:c.1861C>G MANE Select | ENSP00000218104.3:p.His621Asp | |
ENST00000218104.5:c.1861C>G | ENSP00000218104.3:p.His621Asp | |
NM_000033.3:c.1861C>G | NP_000024.2:p.His621Asp | |
XR_938507.1:n.2333C>G | ||
XR_938507.2:n.2333C>G | ||
NM_000033.4:c.1861C>G MANE Select | NP_000024.2:p.His621Asp |