Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818806G>T , CM000671.2:g.129818806G>T | GRCh38 |
| NC_000009.11:g.132581085G>T , CM000671.1:g.132581085G>T | GRCh37 |
| NC_000009.10:g.131620906G>T | NCBI36 |
| NG_008049.1:g.10357C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.559C>A MANE Select | ENSP00000345719.4:p.Leu187Ile | |
| ENST00000651202.1:c.655C>A | ENSP00000498222.1:p.Leu219Ile | |
| ENST00000351698.4:c.559C>A | ENSP00000345719.4:p.Leu187Ile | |
| ENST00000473604.2:n.669C>A | ||
| NM_000113.2:c.559C>A | NP_000104.1:p.Leu187Ile | |
| XR_929731.1:n.719C>A | ||
| XR_929731.3:n.587C>A | ||
| NM_000113.3:c.559C>A MANE Select | NP_000104.1:p.Leu187Ile |