Linked Data
ClinVar Variation Id:
135392
dbSNP Id:
rs2234919
ExAC:
14:81422178 C / A
gnomAD v2:
14-81422178-C-A
gnomAD v3:
14-80955834-C-A
gnomAD v4:
14-80955834-C-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.80955834C>A , CM000676.2:g.80955834C>A | GRCh38 |
| NC_000014.8:g.81422178C>A , CM000676.1:g.81422178C>A | GRCh37 |
| NC_000014.7:g.80491931C>A | NCBI36 |
| NG_009206.1:g.5310C>A , LRG_523:g.5310C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298171.7:c.154C>A (TSHR) MANE Select | ENSP00000298171.2:p.Pro52Thr | |
| ENST00000642209.1:c.154C>A (TSHR) | ENSP00000495625.1:p.Pro52Thr | |
| ENST00000298171.6:c.154C>A (TSHR) | ENSP00000298171.2:p.Pro52Thr | |
| ENST00000342443.10:c.154C>A (TSHR) | ENSP00000340113.6:p.Pro52Thr | |
| ENST00000541158.6:c.154C>A (TSHR) | ENSP00000441235.2:p.Pro52Thr | |
| ENST00000553763.1:n.254C>A (TSHR) | ||
| ENST00000554263.5:c.154C>A (TSHR) | ENSP00000451202.1:p.Pro52Thr | |
| ENST00000554368.1:n.194+2344G>T (CEP128) | ||
| ENST00000554435.1:c.154C>A (TSHR) | ENSP00000450549.1:p.Pro52Thr | |
| ENST00000555326.5:c.154C>A (TSHR) | ENSP00000451092.1:p.Pro52Thr | |
| ENST00000555529.5:c.-172+2344G>T (CEP128) | ENSP00000451137.1:n.-172+2344G>T | |
| ENST00000556042.5:c.-16+2344G>T (CEP128) | ENSP00000451214.1:n.-16+2344G>T | |
| ENST00000556981.5:c.-269+2344G>T (CEP128) | ENSP00000451428.1:n.-269+2344G>T | |
| ENST00000557096.1:n.530C>A (TSHR) | ||
| NM_000369.2:c.154C>A , LRG_523t1:c.154C>A (TSHR) | NP_000360.2:p.Pro52Thr | |
| NM_001018036.2:c.154C>A (TSHR) | NP_001018046.1:p.Pro52Thr | |
| NM_001142626.2:c.154C>A (TSHR) | NP_001136098.1:p.Pro52Thr | |
| XM_005268037.3:c.154C>A (TSHR) | XP_005268094.1:p.Pro52Thr | |
| XM_005268039.1:c.154C>A (TSHR) | XP_005268096.1:p.Pro52Thr | |
| XM_006720245.1:c.154C>A (TSHR) | XP_006720308.1:p.Pro52Thr | |
| XM_011536492.1:c.-16+2344G>T (CEP128) | XP_011534794.1:n.-16+2344G>T | |
| XM_011537119.1:c.-175C>A (TSHR) | XP_011535421.1:n.-175C>A | |
| XM_005268037.4:c.154C>A (TSHR) | XP_005268094.1:p.Pro52Thr | |
| XM_011536492.2:c.-16+2344G>T (CEP128) | XP_011534794.1:n.-16+2344G>T | |
| XM_011537119.2:c.-175C>A (TSHR) | XP_011535421.1:n.-175C>A | |
| NM_000369.4:c.154C>A (TSHR) | NP_000360.2:p.Pro52Thr | |
| NM_001018036.3:c.154C>A (TSHR) | NP_001018046.1:p.Pro52Thr | |
| NM_001142626.3:c.154C>A (TSHR) | NP_001136098.1:p.Pro52Thr | |
| NM_000369.5:c.154C>A (TSHR) MANE Select | NP_000360.2:p.Pro52Thr |