Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.182838703A>C , CM000664.2:g.182838703A>C | GRCh38 |
| NC_000002.11:g.183703431A>C , CM000664.1:g.183703431A>C | GRCh37 |
| NC_000002.10:g.183411676A>C | NCBI36 |
| NG_017197.1:g.33068T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295113.5:c.593-90T>G MANE Select | ENSP00000295113.4:n.593-90T>G | |
| ENST00000295113.4:c.593-90T>G | ENSP00000295113.4:n.593-90T>G | |
| NM_001463.3:c.593-90T>G | NP_001454.2:n.593-90T>G | |
| NM_001463.4:c.593-90T>G MANE Select | NP_001454.2:n.593-90T>G |