HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5045614C= , CM000674.2:g.5045614C= | GRCh38 |
NC_000012.11:g.5154780C= , CM000674.1:g.5154780C= | GRCh37 |
NC_000012.10:g.5025041C= | NCBI36 |
NG_012198.1:g.6696C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252321.5:c.1467C= MANE Select | ENSP00000252321.3:p.Ile489= | |
ENST00000252321.4:c.1467C= | ENSP00000252321.3:p.Ile489= | |
NM_002234.3:c.1467C= | NP_002225.2:p.Ile489= | |
NM_002234.4:c.1467C= MANE Select | NP_002225.2:p.Ile489= |