Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29328434A>G , CM000664.2:g.29328434A>G | GRCh38 |
| NC_000002.11:g.29551300A>G , CM000664.1:g.29551300A>G | GRCh37 |
| NC_000002.10:g.29404804A>G | NCBI36 |
| NG_009445.1:g.598133T>C , LRG_488:g.598133T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.1330T>C MANE Select | ENSP00000373700.3:p.Trp444Arg | |
| ENST00000389048.7:c.1330T>C | ENSP00000373700.3:p.Trp444Arg | |
| ENST00000618119.4:c.199T>C | ENSP00000482733.1:p.Trp67Arg | |
| NM_004304.4:c.1330T>C | NP_004295.2:p.Trp444Arg | |
| XR_939920.1:n.742A>G | ||
| XR_939921.1:n.680+5906A>G | ||
| XR_001738688.2:n.2260T>C | ||
| XR_939920.2:n.632A>G | ||
| XR_939921.2:n.576+5906A>G | ||
| NM_004304.5:c.1330T>C MANE Select | NP_004295.2:p.Trp444Arg |