Linked Data
ClinVar Variation Id:
6442
dbSNP Id:
rs121908869
ExAC:
14:81422146 G / C
gnomAD v2:
14-81422146-G-C
gnomAD v3:
14-80955802-G-C
gnomAD v4:
14-80955802-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.80955802G>C , CM000676.2:g.80955802G>C | GRCh38 |
| NC_000014.8:g.81422146G>C , CM000676.1:g.81422146G>C | GRCh37 |
| NC_000014.7:g.80491899G>C | NCBI36 |
| NG_009206.1:g.5278G>C , LRG_523:g.5278G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298171.7:c.122G>C (TSHR) MANE Select | ENSP00000298171.2:p.Cys41Ser | |
| ENST00000642209.1:c.122G>C (TSHR) | ENSP00000495625.1:p.Cys41Ser | |
| ENST00000298171.6:c.122G>C (TSHR) | ENSP00000298171.2:p.Cys41Ser | |
| ENST00000342443.10:c.122G>C (TSHR) | ENSP00000340113.6:p.Cys41Ser | |
| ENST00000541158.6:c.122G>C (TSHR) | ENSP00000441235.2:p.Cys41Ser | |
| ENST00000553763.1:n.222G>C (TSHR) | ||
| ENST00000554263.5:c.122G>C (TSHR) | ENSP00000451202.1:p.Cys41Ser | |
| ENST00000554368.1:n.194+2376C>G (CEP128) | ||
| ENST00000554435.1:c.122G>C (TSHR) | ENSP00000450549.1:p.Cys41Ser | |
| ENST00000555326.5:c.122G>C (TSHR) | ENSP00000451092.1:p.Cys41Ser | |
| ENST00000555529.5:c.-172+2376C>G (CEP128) | ENSP00000451137.1:n.-172+2376C>G | |
| ENST00000556042.5:c.-16+2376C>G (CEP128) | ENSP00000451214.1:n.-16+2376C>G | |
| ENST00000556981.5:c.-269+2376C>G (CEP128) | ENSP00000451428.1:n.-269+2376C>G | |
| ENST00000557096.1:n.498G>C (TSHR) | ||
| NM_000369.2:c.122G>C , LRG_523t1:c.122G>C (TSHR) | NP_000360.2:p.Cys41Ser | |
| NM_001018036.2:c.122G>C (TSHR) | NP_001018046.1:p.Cys41Ser | |
| NM_001142626.2:c.122G>C (TSHR) | NP_001136098.1:p.Cys41Ser | |
| XM_005268037.3:c.122G>C (TSHR) | XP_005268094.1:p.Cys41Ser | |
| XM_005268039.1:c.122G>C (TSHR) | XP_005268096.1:p.Cys41Ser | |
| XM_006720245.1:c.122G>C (TSHR) | XP_006720308.1:p.Cys41Ser | |
| XM_011536492.1:c.-16+2376C>G (CEP128) | XP_011534794.1:n.-16+2376C>G | |
| XM_011537119.1:c.-207G>C (TSHR) | XP_011535421.1:n.-207G>C | |
| XM_005268037.4:c.122G>C (TSHR) | XP_005268094.1:p.Cys41Ser | |
| XM_011536492.2:c.-16+2376C>G (CEP128) | XP_011534794.1:n.-16+2376C>G | |
| XM_011537119.2:c.-207G>C (TSHR) | XP_011535421.1:n.-207G>C | |
| NM_000369.4:c.122G>C (TSHR) | NP_000360.2:p.Cys41Ser | |
| NM_001018036.3:c.122G>C (TSHR) | NP_001018046.1:p.Cys41Ser | |
| NM_001142626.3:c.122G>C (TSHR) | NP_001136098.1:p.Cys41Ser | |
| NM_000369.5:c.122G>C (TSHR) MANE Select | NP_000360.2:p.Cys41Ser |