Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47572908T>A , CM000685.2:g.47572908T>A | GRCh38 |
| NC_000023.10:g.47432307T>A , CM000685.1:g.47432307T>A | GRCh37 |
| NC_000023.9:g.47317251T>A | NCBI36 |
| NG_008437.1:g.51950A>T | |
| NG_016339.1:g.16792T>A | |
| NG_016339.2:g.16792T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.2074A>T MANE Select | ENSP00000295987.7:p.Ile692Phe | |
| ENST00000340666.5:c.*26A>T | ENSP00000343206.4:n.*26A>T | |
| ENST00000640721.1:c.124A>T | ENSP00000492857.1:p.Ile42Phe | |
| ENST00000295987.11:c.2074A>T | ENSP00000295987.7:p.Ile692Phe | |
| ENST00000340666.4:c.*26A>T | ENSP00000343206.4:n.*26A>T | |
| NM_006950.3:c.2074A>T MANE Select | NP_008881.2:p.Ile692Phe | |
| NM_133499.2:c.*26A>T | NP_598006.1:n.*26A>T |