Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028073T>G , CM000666.2:g.52028073T>G | GRCh38 |
| NC_000004.11:g.52894239T>G , CM000666.1:g.52894239T>G | GRCh37 |
| NC_000004.10:g.52588996T>G | NCBI36 |
| NG_008891.1:g.15247A>C , LRG_204:g.15247A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.648A>C MANE Select | ENSP00000370839.6:p.Leu216Phe | |
| ENST00000381431.9:c.648A>C | ENSP00000370839.5:p.Leu216Phe | |
| NM_000232.4:c.648A>C , LRG_204t1:c.648A>C | NP_000223.1:p.Leu216Phe | |
| XM_006714049.2:c.351A>C | XP_006714112.1:p.Leu117Phe | |
| XM_011534403.1:c.438A>C | XP_011532705.1:p.Leu146Phe | |
| XM_011534404.1:c.351A>C | XP_011532706.1:p.Leu117Phe | |
| NM_000232.5:c.648A>C MANE Select | NP_000223.1:p.Leu216Phe |