Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79921732A>T , CM000668.2:g.79921732A>T | GRCh38 |
| NC_000006.11:g.80631449A>T , CM000668.1:g.80631449A>T | GRCh37 |
| NC_000006.10:g.80688168A>T | NCBI36 |
| NG_009108.1:g.30867T>A | |
| NG_009108.2:g.30867T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369816.5:c.434T>A MANE Select | ENSP00000358831.4:p.Phe145Tyr | |
| ENST00000369816.4:c.434T>A | ENSP00000358831.4:p.Phe145Tyr | |
| NM_022726.3:c.434T>A | NP_073563.1:p.Phe145Tyr | |
| NM_022726.4:c.434T>A MANE Select | NP_073563.1:p.Phe145Tyr |