Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320316G= , CM000667.2:g.159320316G= | GRCh38 |
| NC_000005.9:g.158747324G= , CM000667.1:g.158747324G= | GRCh37 |
| NC_000005.8:g.158679902G= | NCBI36 |
| NG_009618.1:g.15158C= , LRG_71:g.15158C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.57C= | ENSP00000512849.1:p.Ile19= | |
| ENST00000696751.1:c.*182C= | ENSP00000512850.1:n.*182C= | |
| ENST00000231228.3:c.687C= MANE Select | ENSP00000231228.2:p.Ile229= | |
| ENST00000231228.2:c.687C= | ENSP00000231228.2:p.Ile229= | |
| NM_002187.2:c.687C= , LRG_71t1:c.687C= | NP_002178.2:p.Ile229= | |
| NM_002187.3:c.687C= MANE Select | NP_002178.2:p.Ile229= |