HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5044219A>T , CM000674.2:g.5044219A>T | GRCh38 |
NC_000012.11:g.5153385A>T , CM000674.1:g.5153385A>T | GRCh37 |
NC_000012.10:g.5023646A>T | NCBI36 |
NG_012198.1:g.5301A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252321.5:c.72A>T MANE Select | ENSP00000252321.3:p.Ala24= | |
ENST00000252321.4:c.72A>T | ENSP00000252321.3:p.Ala24= | |
NM_002234.3:c.72A>T | NP_002225.2:p.Ala24= | |
NM_002234.4:c.72A>T MANE Select | NP_002225.2:p.Ala24= |