Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98578043G>C , CM000671.2:g.98578043G>C | GRCh38 |
| NC_000009.11:g.101340325G>C , CM000671.1:g.101340325G>C | GRCh37 |
| NC_000009.10:g.100380146G>C | NCBI36 |
| NG_016426.1:g.136155C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259455.4:c.351C>G MANE Select | ENSP00000259455.2:p.Phe117Leu | |
| ENST00000637410.1:n.129C>G | ||
| ENST00000637717.1:c.-34C>G | ENSP00000490789.1:n.-34C>G | |
| ENST00000259455.3:c.351C>G | ENSP00000259455.2:p.Phe117Leu | |
| ENST00000634227.1:n.125C>G | ||
| NM_005458.7:c.351C>G | NP_005449.5:p.Phe117Leu | |
| NM_005458.8:c.351C>G MANE Select | NP_005449.5:p.Phe117Leu |