Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25007132A>T , CM000685.2:g.25007132A>T | GRCh38 |
| NC_000023.10:g.25025249A>T , CM000685.1:g.25025249A>T | GRCh37 |
| NC_000023.9:g.24935170A>T | NCBI36 |
| NG_008281.1:g.13817T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.1427T>A MANE Select | ENSP00000368332.4:p.Phe476Tyr | |
| ENST00000637993.1:c.40T>A | ||
| ENST00000379044.4:c.1427T>A | ENSP00000368332.4:p.Phe476Tyr | |
| NM_139058.2:c.1427T>A | NP_620689.1:p.Phe476Tyr | |
| NM_139058.3:c.1427T>A MANE Select | NP_620689.1:p.Phe476Tyr |