Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350589T>G , CM000672.2:g.47350589T>G | GRCh38 |
| NC_000010.10:g.48388773A>C , CM000672.1:g.48388773A>C | GRCh37 |
| NC_000010.9:g.48008779A>C | NCBI36 |
| NG_029718.1:g.7219T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.2105T>G MANE Select | ENSP00000463151.1:p.Phe702Cys | |
| ENST00000584701.1:c.2105T>G | ENSP00000463151.1:p.Phe702Cys | |
| NM_002900.2:c.2105T>G | NP_002891.1:p.Phe702Cys | |
| NM_002900.3:c.2105T>G MANE Select | NP_002891.1:p.Phe702Cys |