Linked Data
dbSNP Id:
rs1426502661
gnomAD v2:
14-80678353-G-T
gnomAD v3:
14-80212010-G-T
gnomAD v4:
14-80212010-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.80212010G>T , CM000676.2:g.80212010G>T | GRCh38 |
| NC_000014.8:g.80678353G>T , CM000676.1:g.80678353G>T | GRCh37 |
| NC_000014.7:g.79748106G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553594.1:c.-53-485C>A (DIO2) | ENSP00000451265.1:n.-53-485C>A | |
| ENST00000553968.1:c.-230C>A (DIO2) | ENSP00000451339.1:n.-230C>A | |
| ENST00000554188.5:c.-53-485C>A (DIO2) | ENSP00000451136.1:n.-53-485C>A | |
| ENST00000557010.5:c.-53-485C>A (DIO2) | ENSP00000451419.1:n.-53-485C>A | |
| NM_000793.5:c.-53-485C>A (DIO2) | NP_000784.2:n.-53-485C>A | |
| NR_038355.1:n.70+522G>T (DIO2-AS1) | ||
| NM_000793.6:c.-53-485C>A (DIO2) | NP_000784.3:n.-53-485C>A | |
| NM_001324462.2:c.-230C>A (DIO2) | NP_001311391.2:n.-230C>A |