Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814131A>C , CM000671.2:g.129814131A>C | GRCh38 |
| NC_000009.11:g.132576410A>C , CM000671.1:g.132576410A>C | GRCh37 |
| NC_000009.10:g.131616231A>C | NCBI36 |
| NG_008049.1:g.15032T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.840T>G MANE Select | ENSP00000345719.4:p.Cys280Trp | |
| ENST00000651202.1:c.*108T>G | ENSP00000498222.1:n.*108T>G | |
| ENST00000351698.4:c.840T>G | ENSP00000345719.4:p.Cys280Trp | |
| ENST00000474192.1:n.424T>G | ||
| NM_000113.2:c.840T>G | NP_000104.1:p.Cys280Trp | |
| XR_929731.1:n.1167T>G | ||
| XR_929731.3:n.1035T>G | ||
| NM_000113.3:c.840T>G MANE Select | NP_000104.1:p.Cys280Trp |