Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320361G= , CM000667.2:g.159320361G= | GRCh38 |
| NC_000005.9:g.158747369G= , CM000667.1:g.158747369G= | GRCh37 |
| NC_000005.8:g.158679947G= | NCBI36 |
| NG_009618.1:g.15113C= , LRG_71:g.15113C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.12C= | ENSP00000512849.1:p.Ala4= | |
| ENST00000696751.1:c.*137C= | ENSP00000512850.1:n.*137C= | |
| ENST00000231228.3:c.642C= MANE Select | ENSP00000231228.2:p.Ala214= | |
| ENST00000231228.2:c.642C= | ENSP00000231228.2:p.Ala214= | |
| NM_002187.2:c.642C= , LRG_71t1:c.642C= | NP_002178.2:p.Ala214= | |
| NM_002187.3:c.642C= MANE Select | NP_002178.2:p.Ala214= |