Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73442360G>C , CM000666.2:g.73442360G>C | GRCh38 |
| NC_000004.11:g.74308077G>C , CM000666.1:g.74308077G>C | GRCh37 |
| NC_000004.10:g.74526941G>C | NCBI36 |
| NG_023028.1:g.11145G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395792.7:c.547G>C MANE Select | ENSP00000379138.2:p.Ala183Pro | |
| ENST00000226359.2:c.547G>C | ENSP00000226359.2:p.Ala183Pro | |
| ENST00000395792.6:c.547G>C | ENSP00000379138.2:p.Ala183Pro | |
| NM_001134.2:c.547G>C | NP_001125.1:p.Ala183Pro | |
| XM_011531704.1:c.544G>C | XP_011530006.1:p.Ala182Pro | |
| NM_001354717.1:c.73G>C | NP_001341646.1:p.Ala25Pro | |
| NM_001134.3:c.547G>C MANE Select | NP_001125.1:p.Ala183Pro | |
| NM_001354717.2:c.73G>C | NP_001341646.2:p.Ala25Pro |