Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52033508C>T , CM000666.2:g.52033508C>T | GRCh38 |
| NC_000004.11:g.52899674C>T , CM000666.1:g.52899674C>T | GRCh37 |
| NC_000004.10:g.52594431C>T | NCBI36 |
| NG_008891.1:g.9812G>A , LRG_204:g.9812G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.166G>A MANE Select | ENSP00000370839.6:p.Gly56Arg | |
| ENST00000381431.9:c.166G>A | ENSP00000370839.5:p.Gly56Arg | |
| ENST00000506357.5:c.152G>A | ||
| ENST00000514133.1:c.133G>A | ENSP00000425818.1:p.Gly45Arg | |
| NM_000232.4:c.166G>A , LRG_204t1:c.166G>A | NP_000223.1:p.Gly56Arg | |
| XM_006714049.2:c.-242G>A | XP_006714112.1:n.-242G>A | |
| XM_011534403.1:c.34-3645G>A | XP_011532705.1:n.34-3645G>A | |
| XM_011534404.1:c.-219G>A | XP_011532706.1:n.-219G>A | |
| NM_000232.5:c.166G>A MANE Select | NP_000223.1:p.Gly56Arg |