Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52029830C>G , CM000666.2:g.52029830C>G | GRCh38 |
| NC_000004.11:g.52895996C>G , CM000666.1:g.52895996C>G | GRCh37 |
| NC_000004.10:g.52590753C>G | NCBI36 |
| NG_008891.1:g.13490G>C , LRG_204:g.13490G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.277G>C MANE Select | ENSP00000370839.6:p.Gly93Arg | |
| ENST00000381431.9:c.277G>C | ENSP00000370839.5:p.Gly93Arg | |
| ENST00000506357.5:c.360G>C | ||
| ENST00000514133.1:c.354G>C | ENSP00000425818.1:n.354G>C | |
| NM_000232.4:c.277G>C , LRG_204t1:c.277G>C | NP_000223.1:p.Gly93Arg | |
| XM_006714049.2:c.-21G>C | XP_006714112.1:n.-21G>C | |
| XM_011534403.1:c.67G>C | XP_011532705.1:p.Gly23Arg | |
| XM_011534404.1:c.-21G>C | XP_011532706.1:n.-21G>C | |
| NM_000232.5:c.277G>C MANE Select | NP_000223.1:p.Gly93Arg |