Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49128795T>C , CM000674.2:g.49128795T>C | GRCh38 |
| NC_000012.11:g.49522578T>C , CM000674.1:g.49522578T>C | GRCh37 |
| NC_000012.10:g.47808845T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006082.3:c.519A>G MANE Select | NP_006073.2:p.Pro173= |
| ENST00000336023.9:c.519A>G MANE Select | ENSP00000336799.5:p.Pro173= |
| NM_006082.2:c.519A>G | NP_006073.2:p.Pro173= |
| ENST00000332858.10:n.2189A>G | |
| ENST00000547765.5:c.*653A>G | ENSP00000448045.1:n.*653A>G |
| ENST00000550367.1:c.409-10A>G | ENSP00000449325.1:n.409-10A>G |