Linked Data
dbSNP Id:
rs376922578
ExAC:
6:158567858 C / T
gnomAD v2:
6-158567858-C-T
gnomAD v3:
6-158146826-C-T
gnomAD v4:
6-158146826-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158146826C>T , CM000668.2:g.158146826C>T | GRCh38 |
| NC_000006.11:g.158567858C>T , CM000668.1:g.158567858C>T | GRCh37 |
| NC_000006.10:g.158487846C>T | NCBI36 |
| NG_032889.1:g.26455G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607071.6:c.*277G>A | ENSP00000475855.1:n.*277G>A | |
| ENST00000642244.1:c.353G>A | ENSP00000493554.1:p.Arg118Gln | |
| ENST00000642903.1:c.443G>A | ENSP00000493559.1:p.Arg148Gln | |
| ENST00000644972.1:c.443G>A | ENSP00000496451.1:p.Arg148Gln | |
| ENST00000645077.1:c.*277G>A | ENSP00000496113.1:n.*277G>A | |
| ENST00000645172.1:c.*189+2039G>A | ENSP00000495367.1:n.*189+2039G>A | |
| ENST00000646190.1:n.1674G>A | ||
| ENST00000646208.1:c.179G>A | ENSP00000493723.1:p.Arg60Gln | |
| ENST00000646410.1:c.314G>A | ENSP00000494205.1:p.Arg105Gln | |
| ENST00000646562.1:c.*277G>A | ENSP00000496087.1:n.*277G>A | |
| ENST00000647468.2:c.443G>A MANE Select | ENSP00000496731.1:p.Arg148Gln | |
| ENST00000648111.1:c.*87G>A | ENSP00000497275.1:n.*87G>A | |
| ENST00000367101.5:c.443G>A | ENSP00000356068.1:p.Arg148Gln | |
| ENST00000367104.7:c.443G>A | ENSP00000356071.3:p.Arg148Gln | |
| ENST00000606965.5:c.443G>A | ENSP00000475808.1:p.Arg148Gln | |
| ENST00000607000.1:c.443G>A | ENSP00000475788.1:p.Arg148Gln | |
| ENST00000607071.5:c.*277G>A | ENSP00000475855.1:n.*277G>A | |
| ENST00000607742.5:c.*277G>A | ENSP00000475523.1:n.*277G>A | |
| NM_032861.3:c.443G>A | NP_116250.3:p.Arg148Gln | |
| NR_073096.1:n.585G>A | ||
| XM_006715586.1:c.233G>A | XP_006715649.1:p.Arg78Gln | |
| XM_011536196.1:c.422G>A | XP_011534498.1:p.Arg141Gln | |
| XM_011536197.1:c.443G>A | XP_011534499.1:p.Arg148Gln | |
| XM_011536198.1:c.233G>A | XP_011534500.1:p.Arg78Gln | |
| XR_942606.1:n.444G>A | ||
| XM_006715586.3:c.233G>A | XP_006715649.1:p.Arg78Gln | |
| XM_011536196.3:c.422G>A | XP_011534498.1:p.Arg141Gln | |
| XM_011536198.3:c.233G>A | XP_011534500.1:p.Arg78Gln | |
| XM_024446573.1:c.443G>A | XP_024302341.1:p.Arg148Gln | |
| XR_001743697.2:n.524G>A | ||
| XR_942606.2:n.575G>A | ||
| NM_032861.4:c.443G>A MANE Select | NP_116250.3:p.Arg148Gln | |
| NR_073096.2:n.567G>A |