Linked Data
ClinVar Variation Id:
280972
dbSNP Id:
rs781152868
ExAC:
1:155208375 T / C
gnomAD v2:
1-155208375-T-C
gnomAD v4:
1-155238584-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155238584T>C , CM000663.2:g.155238584T>C | GRCh38 |
| NC_000001.10:g.155208375T>C , CM000663.1:g.155208375T>C | GRCh37 |
| NC_000001.9:g.153474999T>C | NCBI36 |
| NG_009783.1:g.11114A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368373.8:c.521A>G MANE Select | ENSP00000357357.3:p.Tyr174Cys | |
| ENST00000327247.9:c.521A>G | ENSP00000314508.5:p.Tyr174Cys | |
| ENST00000368373.7:c.521A>G | ENSP00000357357.3:p.Tyr174Cys | |
| ENST00000427500.7:c.374A>G | ENSP00000402577.2:p.Tyr125Cys | |
| ENST00000428024.3:c.260A>G | ENSP00000397986.2:p.Tyr87Cys | |
| ENST00000460156.1:n.308A>G | ||
| ENST00000473570.5:n.842A>G | ||
| ENST00000484489.5:n.339+1389A>G | ||
| ENST00000491081.5:n.126A>G | ||
| ENST00000493842.5:n.859A>G | ||
| ENST00000497670.5:n.144A>G | ||
| NM_000157.3:c.521A>G | NP_000148.2:p.Tyr174Cys | |
| NM_001005741.2:c.521A>G | NP_001005741.1:p.Tyr174Cys | |
| NM_001005742.2:c.521A>G | NP_001005742.1:p.Tyr174Cys | |
| NM_001171811.1:c.260A>G | NP_001165282.1:p.Tyr87Cys | |
| NM_001171812.1:c.374A>G | NP_001165283.1:p.Tyr125Cys | |
| XM_006711270.1:c.521A>G | XP_006711333.1:p.Tyr174Cys | |
| XM_011509407.1:c.521A>G | XP_011507709.1:p.Tyr174Cys | |
| NM_000157.4:c.521A>G MANE Select | NP_000148.2:p.Tyr174Cys | |
| NM_001005741.3:c.521A>G | NP_001005741.1:p.Tyr174Cys | |
| NM_001005742.3:c.521A>G | NP_001005742.1:p.Tyr174Cys | |
| NM_001171811.2:c.260A>G | NP_001165282.1:p.Tyr87Cys | |
| NM_001171812.2:c.374A>G | NP_001165283.1:p.Tyr125Cys |