Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814198A>C , CM000671.2:g.129814198A>C | GRCh38 |
| NC_000009.11:g.132576477A>C , CM000671.1:g.132576477A>C | GRCh37 |
| NC_000009.10:g.131616298A>C | NCBI36 |
| NG_008049.1:g.14965T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.773T>G MANE Select | ENSP00000345719.4:p.Ile258Ser | |
| ENST00000651202.1:c.*41T>G | ENSP00000498222.1:n.*41T>G | |
| ENST00000351698.4:c.773T>G | ENSP00000345719.4:p.Ile258Ser | |
| ENST00000474192.1:n.357T>G | ||
| NM_000113.2:c.773T>G | NP_000104.1:p.Ile258Ser | |
| XR_929731.1:n.1100T>G | ||
| XR_929731.3:n.968T>G | ||
| NM_000113.3:c.773T>G MANE Select | NP_000104.1:p.Ile258Ser |