Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.106381662T>G , CM000668.2:g.106381662T>G | GRCh38 |
| NC_000006.11:g.106829537T>G , CM000668.1:g.106829537T>G | GRCh37 |
| NC_000006.10:g.106936230T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001371242.2:c.173+20581T>G MANE Select | NP_001358171.1:n.173+20581T>G |
| ENST00000633556.3:c.173+20581T>G MANE Select | ENSP00000488010.2:n.173+20581T>G |
| ENST00000633556.1:c.173+20581T>G | ENSP00000488010.1:n.173+20581T>G |
| XM_005266839.2:c.173+20581T>G | XP_005266896.1:n.173+20581T>G |
| XM_005266839.3:c.173+20581T>G | XP_005266896.1:n.173+20581T>G |