Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73489200T>C , CM000669.2:g.73489200T>C | GRCh38 |
| NC_000007.13:g.72903530T>C , CM000669.1:g.72903530T>C | GRCh37 |
| NC_000007.12:g.72541466T>C | NCBI36 |
| NG_027679.1:g.38086A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032408.4:c.885A>G MANE Select | NP_115784.1:p.Pro295= |
| ENST00000339594.9:c.885A>G MANE Select | ENSP00000342434.4:p.Pro295= |
| NM_001370402.1:c.885A>G | NP_001357331.1:p.Pro295= |
| NM_032408.3:c.885A>G | NP_115784.1:p.Pro295= |
| ENST00000339594.8:c.885A>G | ENSP00000342434.4:p.Pro295= |
| ENST00000404251.1:c.885A>G | ENSP00000385442.1:p.Pro295= |
| XM_005250683.2:c.885A>G | XP_005250740.2:p.Pro295= |
| XM_017012773.2:c.885A>G | XP_016868262.1:p.Pro295= |
| XR_001744892.2:n.1003A>G |