HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5044890C>A , CM000674.2:g.5044890C>A | GRCh38 |
NC_000012.11:g.5154056C>A , CM000674.1:g.5154056C>A | GRCh37 |
NC_000012.10:g.5024317C>A | NCBI36 |
NG_012198.1:g.5972C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252321.5:c.743C>A MANE Select | ENSP00000252321.3:p.Ser248Tyr | |
ENST00000252321.4:c.743C>A | ENSP00000252321.3:p.Ser248Tyr | |
NM_002234.3:c.743C>A | NP_002225.2:p.Ser248Tyr | |
NM_002234.4:c.743C>A MANE Select | NP_002225.2:p.Ser248Tyr |