HGVS | Genome Assembly |
---|---|
NC_000023.11:g.25013365G>C , CM000685.2:g.25013365G>C | GRCh38 |
NC_000023.10:g.25031482G>C , CM000685.1:g.25031482G>C | GRCh37 |
NC_000023.9:g.24941403G>C | NCBI36 |
NG_008281.1:g.7584C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379044.5:c.630C>G MANE Select | ENSP00000368332.4:p.Gly210= | |
ENST00000379044.4:c.630C>G | ENSP00000368332.4:p.Gly210= | |
NM_139058.2:c.630C>G | NP_620689.1:p.Gly210= | |
NM_139058.3:c.630C>G MANE Select | NP_620689.1:p.Gly210= |