Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129822670T>C , CM000671.2:g.129822670T>C | GRCh38 |
| NC_000009.11:g.132584949T>C , CM000671.1:g.132584949T>C | GRCh37 |
| NC_000009.10:g.131624770T>C | NCBI36 |
| NG_008049.1:g.6493A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.355A>G MANE Select | ENSP00000345719.4:p.Ile119Val | |
| ENST00000651202.1:c.451A>G | ENSP00000498222.1:p.Ile151Val | |
| ENST00000351698.4:c.355A>G | ENSP00000345719.4:p.Ile119Val | |
| ENST00000473084.1:n.374A>G | ||
| ENST00000473604.2:n.465A>G | ||
| NM_000113.2:c.355A>G | NP_000104.1:p.Ile119Val | |
| XR_929731.1:n.515A>G | ||
| XR_929731.3:n.383A>G | ||
| NM_000113.3:c.355A>G MANE Select | NP_000104.1:p.Ile119Val |