HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52652005A>C , CM000674.2:g.52652005A>C | GRCh38 |
NC_000012.11:g.53045789A>C , CM000674.1:g.53045789A>C | GRCh37 |
NC_000012.10:g.51332056A>C | NCBI36 |
NG_008296.1:g.5171T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309680.4:c.138T>G MANE Select | ENSP00000310861.3:p.His46Gln | |
ENST00000309680.3:c.138T>G | ENSP00000310861.3:p.His46Gln | |
NM_000423.2:c.138T>G | NP_000414.2:p.His46Gln | |
NM_000423.3:c.138T>G MANE Select | NP_000414.2:p.His46Gln |