Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814054A>C , CM000671.2:g.129814054A>C | GRCh38 |
| NC_000009.11:g.132576333A>C , CM000671.1:g.132576333A>C | GRCh37 |
| NC_000009.10:g.131616154A>C | NCBI36 |
| NG_008049.1:g.15109T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.917T>G MANE Select | ENSP00000345719.4:p.Phe306Cys | |
| ENST00000651202.1:c.*185T>G | ENSP00000498222.1:n.*185T>G | |
| ENST00000351698.4:c.917T>G | ENSP00000345719.4:p.Phe306Cys | |
| ENST00000474192.1:n.501T>G | ||
| NM_000113.2:c.917T>G | NP_000104.1:p.Phe306Cys | |
| XR_929731.1:n.1244T>G | ||
| XR_929731.3:n.1112T>G | ||
| NM_000113.3:c.917T>G MANE Select | NP_000104.1:p.Phe306Cys |