Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320447C>T , CM000667.2:g.159320447C>T | GRCh38 |
| NC_000005.9:g.158747455C>T , CM000667.1:g.158747455C>T | GRCh37 |
| NC_000005.8:g.158680033C>T | NCBI36 |
| NG_009618.1:g.15027G>A , LRG_71:g.15027G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-75G>A | ENSP00000512849.1:n.-75G>A | |
| ENST00000696751.1:c.*51G>A | ENSP00000512850.1:n.*51G>A | |
| ENST00000231228.3:c.556G>A MANE Select | ENSP00000231228.2:p.Glu186Lys | |
| ENST00000231228.2:c.556G>A | ENSP00000231228.2:p.Glu186Lys | |
| NM_002187.2:c.556G>A , LRG_71t1:c.556G>A | NP_002178.2:p.Glu186Lys | |
| NM_002187.3:c.556G>A MANE Select | NP_002178.2:p.Glu186Lys |