Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320506T>A , CM000667.2:g.159320506T>A | GRCh38 |
| NC_000005.9:g.158747514T>A , CM000667.1:g.158747514T>A | GRCh37 |
| NC_000005.8:g.158680092T>A | NCBI36 |
| NG_009618.1:g.14968A>T , LRG_71:g.14968A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-134A>T | ENSP00000512849.1:n.-134A>T | |
| ENST00000696751.1:c.379A>T | ENSP00000512850.1:p.Lys127Ter | |
| ENST00000231228.3:c.497A>T MANE Select | ENSP00000231228.2:p.Gln166Leu | |
| ENST00000231228.2:c.497A>T | ENSP00000231228.2:p.Gln166Leu | |
| NM_002187.2:c.497A>T , LRG_71t1:c.497A>T | NP_002178.2:p.Gln166Leu | |
| XR_001742945.1:n.57T>A | ||
| NM_002187.3:c.497A>T MANE Select | NP_002178.2:p.Gln166Leu |