Linked Data
ClinVar Variation Id:
1470232
ClinVar RCV Id:
RCV001973215
dbSNP Id:
rs1331741437
gnomAD v2:
6-158535863-A-G
gnomAD v3:
6-158114831-A-G
gnomAD v4:
6-158114831-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158114831A>G , CM000668.2:g.158114831A>G | GRCh38 |
| NC_000006.11:g.158535863A>G , CM000668.1:g.158535863A>G | GRCh37 |
| NC_000006.10:g.158455851A>G | NCBI36 |
| NG_032889.1:g.58450T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435180.6:c.854T>C | ENSP00000391168.2:n.854T>C | |
| ENST00000607071.6:c.*1362T>C | ENSP00000475855.1:n.*1362T>C | |
| ENST00000642244.1:c.1552T>C | ENSP00000493554.1:p.Tyr518His | |
| ENST00000642903.1:c.1642T>C | ENSP00000493559.1:p.Tyr548His | |
| ENST00000644972.1:c.1642T>C | ENSP00000496451.1:p.Tyr548His | |
| ENST00000645077.1:c.*1263T>C | ENSP00000496113.1:n.*1263T>C | |
| ENST00000645172.1:c.*1344T>C | ENSP00000495367.1:n.*1344T>C | |
| ENST00000646190.1:n.2973T>C | ||
| ENST00000646208.1:c.1378T>C | ENSP00000493723.1:p.Tyr460His | |
| ENST00000646410.1:c.1513T>C | ENSP00000494205.1:p.Tyr505His | |
| ENST00000646562.1:c.*1476T>C | ENSP00000496087.1:n.*1476T>C | |
| ENST00000647468.2:c.1642T>C MANE Select | ENSP00000496731.1:p.Tyr548His | |
| ENST00000648111.1:c.*1330T>C | ENSP00000497275.1:n.*1330T>C | |
| ENST00000367101.5:c.*90T>C | ENSP00000356068.1:n.*90T>C | |
| ENST00000367104.7:c.1642T>C | ENSP00000356071.3:p.Tyr548His | |
| ENST00000435180.5:c.367T>C | ENSP00000391168.1:p.Tyr123His | |
| ENST00000606965.5:c.*203T>C | ENSP00000475808.1:n.*203T>C | |
| ENST00000607071.5:c.*1576T>C | ENSP00000475855.1:n.*1576T>C | |
| ENST00000607742.5:c.*2920T>C | ENSP00000475523.1:n.*2920T>C | |
| NM_032861.3:c.1642T>C | NP_116250.3:p.Tyr548His | |
| NR_073096.1:n.1575T>C | ||
| XM_006715586.1:c.1432T>C | XP_006715649.1:p.Tyr478His | |
| XM_011536196.1:c.1621T>C | XP_011534498.1:p.Tyr541His | |
| XM_011536197.1:c.1528T>C | XP_011534499.1:p.Tyr510His | |
| XM_011536198.1:c.1432T>C | XP_011534500.1:p.Tyr478His | |
| XM_006715586.3:c.1432T>C | XP_006715649.1:p.Tyr478His | |
| XM_011536196.3:c.1621T>C | XP_011534498.1:p.Tyr541His | |
| XM_011536198.3:c.1432T>C | XP_011534500.1:p.Tyr478His | |
| XM_024446573.1:c.1642T>C | XP_024302341.1:p.Tyr548His | |
| XR_001743697.2:n.1673T>C | ||
| XR_942606.2:n.1724T>C | ||
| NM_032861.4:c.1642T>C MANE Select | NP_116250.3:p.Tyr548His | |
| NR_073096.2:n.1557T>C |