Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52033445C>A , CM000666.2:g.52033445C>A | GRCh38 |
| NC_000004.11:g.52899611C>A , CM000666.1:g.52899611C>A | GRCh37 |
| NC_000004.10:g.52594368C>A | NCBI36 |
| NG_008891.1:g.9875G>T , LRG_204:g.9875G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.229G>T MANE Select | ENSP00000370839.6:p.Val77Phe | |
| ENST00000381431.9:c.229G>T | ENSP00000370839.5:p.Val77Phe | |
| ENST00000506357.5:c.215G>T | ||
| ENST00000514133.1:c.196G>T | ENSP00000425818.1:p.Val66Phe | |
| NM_000232.4:c.229G>T , LRG_204t1:c.229G>T | NP_000223.1:p.Val77Phe | |
| XM_006714049.2:c.-179G>T | XP_006714112.1:n.-179G>T | |
| XM_011534403.1:c.34-3582G>T | XP_011532705.1:n.34-3582G>T | |
| XM_011534404.1:c.-156G>T | XP_011532706.1:n.-156G>T | |
| NM_000232.5:c.229G>T MANE Select | NP_000223.1:p.Val77Phe |