Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152675937G>C , CM000669.2:g.152675937G>C | GRCh38 |
| NC_000007.13:g.152373022G>C , CM000669.1:g.152373022G>C | GRCh37 |
| NC_000007.12:g.152003955G>C | NCBI36 |
| NG_027988.1:g.5229C>G | |
| NG_027988.2:g.5229C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.-48+104C>G | ENSP00000513758.1:n.-48+104C>G | |
| ENST00000698507.1:n.107+104C>G | ||
| ENST00000359321.2:c.39+104C>G MANE Select | ENSP00000352271.1:n.39+104C>G | |
| ENST00000359321.1:c.39+104C>G | ENSP00000352271.1:n.39+104C>G | |
| NM_005431.1:c.39+104C>G | NP_005422.1:n.39+104C>G | |
| NM_005431.2:c.39+104C>G MANE Select | NP_005422.1:n.39+104C>G |