Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.6885478G>C , CM000686.2:g.6885478G>C | GRCh38 |
| NC_000024.9:g.6753519G>C , CM000686.1:g.6753519G>C | GRCh37 |
| NC_000024.8:g.6813519G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001143.2:c.-112-11407C>G MANE Select | NP_001134.1:n.-112-11407C>G |
| ENST00000651267.2:c.-112-11407C>G MANE Select | ENSP00000498344.1:n.-112-11407C>G |
| ENST00000651267.1:c.-112-11407C>G | ENSP00000498344.1:n.-112-11407C>G |
| XM_011531472.1:c.-112-11407C>G | XP_011529774.1:n.-112-11407C>G |