Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818864G>T , CM000671.2:g.129818864G>T | GRCh38 |
| NC_000009.11:g.132581143G>T , CM000671.1:g.132581143G>T | GRCh37 |
| NC_000009.10:g.131620964G>T | NCBI36 |
| NG_008049.1:g.10299C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.501C>A MANE Select | ENSP00000345719.4:p.Phe167Leu | |
| ENST00000651202.1:c.597C>A | ENSP00000498222.1:p.Phe199Leu | |
| ENST00000351698.4:c.501C>A | ENSP00000345719.4:p.Phe167Leu | |
| ENST00000473604.2:n.611C>A | ||
| NM_000113.2:c.501C>A | NP_000104.1:p.Phe167Leu | |
| XR_929731.1:n.661C>A | ||
| XR_929731.3:n.529C>A | ||
| NM_000113.3:c.501C>A MANE Select | NP_000104.1:p.Phe167Leu |