Linked Data
ClinVar Variation Id:
215143
dbSNP Id:
rs751450632
ExAC:
6:158535970 G / A
gnomAD v2:
6-158535970-G-A
gnomAD v3:
6-158114938-G-A
gnomAD v4:
6-158114938-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158114938G>A , CM000668.2:g.158114938G>A | GRCh38 |
| NC_000006.11:g.158535970G>A , CM000668.1:g.158535970G>A | GRCh37 |
| NC_000006.10:g.158455958G>A | NCBI36 |
| NG_032889.1:g.58343C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435180.6:c.747C>T | ENSP00000391168.2:n.747C>T | |
| ENST00000607071.6:c.*1255C>T | ENSP00000475855.1:n.*1255C>T | |
| ENST00000642244.1:c.1445C>T | ENSP00000493554.1:p.Ser482Phe | |
| ENST00000642903.1:c.1535C>T | ENSP00000493559.1:p.Ser512Phe | |
| ENST00000644972.1:c.1535C>T | ENSP00000496451.1:p.Ser512Phe | |
| ENST00000645077.1:c.*1156C>T | ENSP00000496113.1:n.*1156C>T | |
| ENST00000645172.1:c.*1237C>T | ENSP00000495367.1:n.*1237C>T | |
| ENST00000646190.1:n.2866C>T | ||
| ENST00000646208.1:c.1271C>T | ENSP00000493723.1:p.Ser424Phe | |
| ENST00000646410.1:c.1406C>T | ENSP00000494205.1:p.Ser469Phe | |
| ENST00000646562.1:c.*1369C>T | ENSP00000496087.1:n.*1369C>T | |
| ENST00000647468.2:c.1535C>T MANE Select | ENSP00000496731.1:p.Ser512Phe | |
| ENST00000648111.1:c.*1223C>T | ENSP00000497275.1:n.*1223C>T | |
| ENST00000367101.5:c.1579C>T | ENSP00000356068.1:p.Leu527= | |
| ENST00000367104.7:c.1535C>T | ENSP00000356071.3:p.Ser512Phe | |
| ENST00000435180.5:c.260C>T | ENSP00000391168.1:p.Ser87Phe | |
| ENST00000606965.5:c.*96C>T | ENSP00000475808.1:n.*96C>T | |
| ENST00000607071.5:c.*1469C>T | ENSP00000475855.1:n.*1469C>T | |
| ENST00000607742.5:c.*2813C>T | ENSP00000475523.1:n.*2813C>T | |
| NM_032861.3:c.1535C>T | NP_116250.3:p.Ser512Phe | |
| NR_073096.1:n.1468C>T | ||
| XM_006715586.1:c.1325C>T | XP_006715649.1:p.Ser442Phe | |
| XM_011536196.1:c.1514C>T | XP_011534498.1:p.Ser505Phe | |
| XM_011536197.1:c.1421C>T | XP_011534499.1:p.Ser474Phe | |
| XM_011536198.1:c.1325C>T | XP_011534500.1:p.Ser442Phe | |
| XM_006715586.3:c.1325C>T | XP_006715649.1:p.Ser442Phe | |
| XM_011536196.3:c.1514C>T | XP_011534498.1:p.Ser505Phe | |
| XM_011536198.3:c.1325C>T | XP_011534500.1:p.Ser442Phe | |
| XM_024446573.1:c.1535C>T | XP_024302341.1:p.Ser512Phe | |
| XR_001743697.2:n.1566C>T | ||
| XR_942606.2:n.1617C>T | ||
| NM_032861.4:c.1535C>T MANE Select | NP_116250.3:p.Ser512Phe | |
| NR_073096.2:n.1450C>T |