Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153690450G>A , CM000685.2:g.153690450G>A | GRCh38 |
| NC_000023.10:g.152955905G>A , CM000685.1:g.152955905G>A | GRCh37 |
| NC_000023.9:g.152609099G>A | NCBI36 |
| NG_012016.1:g.7154G>A | |
| NG_012016.2:g.7154G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.338G>A MANE Select | ENSP00000253122.5:p.Gly113Asp | |
| ENST00000675713.1:n.92G>A | ||
| ENST00000253122.9:c.338G>A | ENSP00000253122.5:p.Gly113Asp | |
| ENST00000430077.6:c.-8G>A | ENSP00000403041.2:n.-8G>A | |
| ENST00000476466.1:n.190G>A | ||
| NM_001142805.1:c.338G>A | NP_001136277.1:p.Gly113Asp | |
| NM_001142806.1:c.-8G>A | NP_001136278.1:n.-8G>A | |
| NM_005629.3:c.338G>A | NP_005620.1:p.Gly113Asp | |
| NM_005629.4:c.338G>A MANE Select | NP_005620.1:p.Gly113Asp | |
| NM_001142805.2:c.338G>A | NP_001136277.1:p.Gly113Asp |