Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41812852C>G , CM000679.2:g.41812852C>G | GRCh38 |
| NC_000017.10:g.39969104C>G , CM000679.1:g.39969104C>G | GRCh37 |
| NC_000017.9:g.37222630C>G | NCBI36 |
| NG_015860.1:g.5143C>G , LRG_12:g.5143C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021939.3:c.-183C>G , LRG_12t1:c.-183C>G | NP_068758.3:n.-183C>G |
| ENST00000429461.5:c.-93C>G | ENSP00000408232.1:n.-93C>G |
| ENST00000585664.5:c.-23+113C>G | ENSP00000468703.1:n.-23+113C>G |
| ENST00000585922.5:c.-6+113C>G | ENSP00000466097.1:n.-6+113C>G |
| XM_011525099.1:c.-183C>G | XP_011523401.1:n.-183C>G |