Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52033468A>G , CM000666.2:g.52033468A>G | GRCh38 |
| NC_000004.11:g.52899634A>G , CM000666.1:g.52899634A>G | GRCh37 |
| NC_000004.10:g.52594391A>G | NCBI36 |
| NG_008891.1:g.9852T>C , LRG_204:g.9852T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.206T>C MANE Select | ENSP00000370839.6:p.Ile69Thr | |
| ENST00000381431.9:c.206T>C | ENSP00000370839.5:p.Ile69Thr | |
| ENST00000506357.5:c.192T>C | ||
| ENST00000514133.1:c.173T>C | ENSP00000425818.1:p.Ile58Thr | |
| NM_000232.4:c.206T>C , LRG_204t1:c.206T>C | NP_000223.1:p.Ile69Thr | |
| XM_006714049.2:c.-202T>C | XP_006714112.1:n.-202T>C | |
| XM_011534403.1:c.34-3605T>C | XP_011532705.1:n.34-3605T>C | |
| XM_011534404.1:c.-179T>C | XP_011532706.1:n.-179T>C | |
| NM_000232.5:c.206T>C MANE Select | NP_000223.1:p.Ile69Thr |