Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52033450A>G , CM000666.2:g.52033450A>G | GRCh38 |
| NC_000004.11:g.52899616A>G , CM000666.1:g.52899616A>G | GRCh37 |
| NC_000004.10:g.52594373A>G | NCBI36 |
| NG_008891.1:g.9870T>C , LRG_204:g.9870T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.224T>C MANE Select | ENSP00000370839.6:p.Leu75Pro | |
| ENST00000381431.9:c.224T>C | ENSP00000370839.5:p.Leu75Pro | |
| ENST00000506357.5:c.210T>C | ||
| ENST00000514133.1:c.191T>C | ENSP00000425818.1:p.Leu64Pro | |
| NM_000232.4:c.224T>C , LRG_204t1:c.224T>C | NP_000223.1:p.Leu75Pro | |
| XM_006714049.2:c.-184T>C | XP_006714112.1:n.-184T>C | |
| XM_011534403.1:c.34-3587T>C | XP_011532705.1:n.34-3587T>C | |
| XM_011534404.1:c.-161T>C | XP_011532706.1:n.-161T>C | |
| NM_000232.5:c.224T>C MANE Select | NP_000223.1:p.Leu75Pro |