Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32064951C>T , CM000668.2:g.32064951C>T | GRCh38 |
| NC_000006.11:g.32032728C>T , CM000668.1:g.32032728C>T | GRCh37 |
| NC_000006.10:g.32140706C>T | NCBI36 |
| NG_008337.2:g.49424G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001365276.2:c.6711G>A MANE Select | NP_001352205.1:p.Ala2237= |
| ENST00000644971.2:c.6711G>A MANE Select | ENSP00000496448.1:p.Ala2237= |
| NM_001365276.1:c.6711G>A | NP_001352205.1:p.Ala2237= |
| NM_019105.6:c.6711G>A | NP_061978.6:p.Ala2237= |
| NM_019105.7:c.6711G>A | NP_061978.6:p.Ala2237= |
| NM_019105.8:c.6711G>A | NP_061978.6:p.Ala2237= |
| ENST00000375244.7:c.6711G>A | ENSP00000364393.3:p.Ala2237= |
| ENST00000647633.1:c.7452G>A | ENSP00000497649.1:p.Ala2484= |