Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.80212026C>A , CM000676.2:g.80212026C>A | GRCh38 |
| NC_000014.8:g.80678369C>A , CM000676.1:g.80678369C>A | GRCh37 |
| NC_000014.7:g.79748122C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553594.1:c.-53-501G>T (DIO2) | ENSP00000451265.1:n.-53-501G>T | |
| ENST00000553968.1:c.-246G>T (DIO2) | ENSP00000451339.1:n.-246G>T | |
| ENST00000554188.5:c.-53-501G>T (DIO2) | ENSP00000451136.1:n.-53-501G>T | |
| ENST00000557010.5:c.-53-501G>T (DIO2) | ENSP00000451419.1:n.-53-501G>T | |
| NM_000793.5:c.-53-501G>T (DIO2) | NP_000784.2:n.-53-501G>T | |
| NR_038355.1:n.70+538C>A (DIO2-AS1) | ||
| NM_000793.6:c.-53-501G>T (DIO2) | NP_000784.3:n.-53-501G>T | |
| NM_001324462.2:c.-246G>T (DIO2) | NP_001311391.2:n.-246G>T |