Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320420C>T , CM000667.2:g.159320420C>T | GRCh38 |
| NC_000005.9:g.158747428C>T , CM000667.1:g.158747428C>T | GRCh37 |
| NC_000005.8:g.158680006C>T | NCBI36 |
| NG_009618.1:g.15054G>A , LRG_71:g.15054G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-48G>A | ENSP00000512849.1:n.-48G>A | |
| ENST00000696751.1:c.*78G>A | ENSP00000512850.1:n.*78G>A | |
| ENST00000231228.3:c.583G>A MANE Select | ENSP00000231228.2:p.Glu195Lys | |
| ENST00000231228.2:c.583G>A | ENSP00000231228.2:p.Glu195Lys | |
| NM_002187.2:c.583G>A , LRG_71t1:c.583G>A | NP_002178.2:p.Glu195Lys | |
| NM_002187.3:c.583G>A MANE Select | NP_002178.2:p.Glu195Lys |