Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863548G= , CM000672.2:g.87863548G= | GRCh38 |
| NC_000010.10:g.89623305G= , CM000672.1:g.89623305G= | GRCh37 |
| NC_000010.9:g.89613285G= | NCBI36 |
| NG_007466.2:g.5111G= , LRG_311:g.5111G= | |
| NG_033079.1:g.4890C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-16-906G= | ENSP00000516674.1:n.-16-906G= | |
| ENST00000688308.1:c.-17+435G= | ENSP00000508752.1:n.-17+435G= | |
| ENST00000693560.1:c.-402G= | ENSP00000509861.1:n.-402G= | |
| ENST00000371953.7:c.-922G= | ENSP00000361021.3:n.-922G= | |
| ENST00000610634.1:c.-1024G= | ENSP00000477517.1:n.-1024G= | |
| NM_000314.5:c.-921G= | NP_000305.3:n.-921G= | |
| NM_000314.6:c.-921G= | NP_000305.3:n.-921G= | |
| NM_001304717.2:c.-402G= | NP_001291646.2:n.-402G= | |
| NM_001304718.1:c.-1626G= | NP_001291647.1:n.-1626G= |