Linked Data
ClinVar Variation Id:
885227
dbSNP Id:
rs1180169266
gnomAD v3:
14-80955515-C-T
gnomAD v4:
14-80955515-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.80955515C>T , CM000676.2:g.80955515C>T | GRCh38 |
| NC_000014.8:g.81421859C>T , CM000676.1:g.81421859C>T | GRCh37 |
| NC_000014.7:g.80491612C>T | NCBI36 |
| NG_009206.1:g.4991C>T , LRG_523:g.4991C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342443.10:c.-166C>T (TSHR) | ENSP00000340113.6:n.-166C>T | |
| ENST00000541158.6:c.-156-10C>T (TSHR) | ENSP00000441235.2:n.-156-10C>T | |
| ENST00000554368.1:n.194+2663G>A (CEP128) | ||
| ENST00000555529.5:c.-172+2663G>A (CEP128) | ENSP00000451137.1:n.-172+2663G>A | |
| ENST00000556042.5:c.-16+2663G>A (CEP128) | ENSP00000451214.1:n.-16+2663G>A | |
| ENST00000556981.5:c.-269+2663G>A (CEP128) | ENSP00000451428.1:n.-269+2663G>A | |
| ENST00000557096.1:n.221-10C>T (TSHR) | ||
| XM_005268037.3:c.-156-10C>T (TSHR) | XP_005268094.1:n.-156-10C>T | |
| XM_005268039.1:c.-156-10C>T (TSHR) | XP_005268096.1:n.-156-10C>T | |
| XM_006720245.1:c.-156-10C>T (TSHR) | XP_006720308.1:n.-156-10C>T | |
| XM_011536492.1:c.-16+2663G>A (CEP128) | XP_011534794.1:n.-16+2663G>A | |
| XM_005268037.4:c.-156-10C>T (TSHR) | XP_005268094.1:n.-156-10C>T | |
| XM_011536492.2:c.-16+2663G>A (CEP128) | XP_011534794.1:n.-16+2663G>A |