HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52652007G>T , CM000674.2:g.52652007G>T | GRCh38 |
NC_000012.11:g.53045791G>T , CM000674.1:g.53045791G>T | GRCh37 |
NC_000012.10:g.51332058G>T | NCBI36 |
NG_008296.1:g.5169C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309680.4:c.136C>A MANE Select | ENSP00000310861.3:p.His46Asn | |
ENST00000309680.3:c.136C>A | ENSP00000310861.3:p.His46Asn | |
NM_000423.2:c.136C>A | NP_000414.2:p.His46Asn | |
NM_000423.3:c.136C>A MANE Select | NP_000414.2:p.His46Asn |