Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320323A>T , CM000667.2:g.159320323A>T | GRCh38 |
| NC_000005.9:g.158747331A>T , CM000667.1:g.158747331A>T | GRCh37 |
| NC_000005.8:g.158679909A>T | NCBI36 |
| NG_009618.1:g.15151T>A , LRG_71:g.15151T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.50T>A | ENSP00000512849.1:p.Phe17Tyr | |
| ENST00000696751.1:c.*175T>A | ENSP00000512850.1:n.*175T>A | |
| ENST00000231228.3:c.680T>A MANE Select | ENSP00000231228.2:p.Phe227Tyr | |
| ENST00000231228.2:c.680T>A | ENSP00000231228.2:p.Phe227Tyr | |
| NM_002187.2:c.680T>A , LRG_71t1:c.680T>A | NP_002178.2:p.Phe227Tyr | |
| NM_002187.3:c.680T>A MANE Select | NP_002178.2:p.Phe227Tyr |