HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5044973A>C , CM000674.2:g.5044973A>C | GRCh38 |
NC_000012.11:g.5154139A>C , CM000674.1:g.5154139A>C | GRCh37 |
NC_000012.10:g.5024400A>C | NCBI36 |
NG_012198.1:g.6055A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252321.5:c.826A>C MANE Select | ENSP00000252321.3:p.Arg276= | |
ENST00000252321.4:c.826A>C | ENSP00000252321.3:p.Arg276= | |
NM_002234.3:c.826A>C | NP_002225.2:p.Arg276= | |
NM_002234.4:c.826A>C MANE Select | NP_002225.2:p.Arg276= |