Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863555G= , CM000672.2:g.87863555G= | GRCh38 |
| NC_000010.10:g.89623312G= , CM000672.1:g.89623312G= | GRCh37 |
| NC_000010.9:g.89613292G= | NCBI36 |
| NG_007466.2:g.5118G= , LRG_311:g.5118G= | |
| NG_033079.1:g.4883C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-16-899G= | ENSP00000516674.1:n.-16-899G= | |
| ENST00000688308.1:c.-17+442G= | ENSP00000508752.1:n.-17+442G= | |
| ENST00000693560.1:c.-395G= | ENSP00000509861.1:n.-395G= | |
| ENST00000371953.7:c.-915G= | ENSP00000361021.3:n.-915G= | |
| ENST00000610634.1:c.-1017G= | ENSP00000477517.1:n.-1017G= | |
| NM_000314.5:c.-914G= | NP_000305.3:n.-914G= | |
| NM_000314.6:c.-914G= | NP_000305.3:n.-914G= | |
| NM_001304717.2:c.-395G= | NP_001291646.2:n.-395G= | |
| NM_001304718.1:c.-1619G= | NP_001291647.1:n.-1619G= |