Linked Data
ClinVar Variation Id:
378570
dbSNP Id:
rs115459512
ExAC:
6:158538766 T / A
gnomAD v2:
6-158538766-T-A
gnomAD v3:
6-158117734-T-A
gnomAD v4:
6-158117734-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158117734T>A , CM000668.2:g.158117734T>A | GRCh38 |
| NC_000006.11:g.158538766T>A , CM000668.1:g.158538766T>A | GRCh37 |
| NC_000006.10:g.158458754T>A | NCBI36 |
| NG_032889.1:g.55547A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435180.6:c.608A>T | ENSP00000391168.2:n.608A>T | |
| ENST00000607071.6:c.*1116A>T | ENSP00000475855.1:n.*1116A>T | |
| ENST00000642244.1:c.1306A>T | ENSP00000493554.1:p.Met436Leu | |
| ENST00000642903.1:c.1396A>T | ENSP00000493559.1:p.Met466Leu | |
| ENST00000644972.1:c.1396A>T | ENSP00000496451.1:p.Met466Leu | |
| ENST00000645077.1:c.*1017A>T | ENSP00000496113.1:n.*1017A>T | |
| ENST00000645172.1:c.*1098A>T | ENSP00000495367.1:n.*1098A>T | |
| ENST00000646190.1:n.2727A>T | ||
| ENST00000646208.1:c.1132A>T | ENSP00000493723.1:p.Met378Leu | |
| ENST00000646410.1:c.1267A>T | ENSP00000494205.1:p.Met423Leu | |
| ENST00000646562.1:c.*1230A>T | ENSP00000496087.1:n.*1230A>T | |
| ENST00000647468.2:c.1396A>T MANE Select | ENSP00000496731.1:p.Met466Leu | |
| ENST00000648111.1:c.*1040A>T | ENSP00000497275.1:n.*1040A>T | |
| ENST00000367101.5:c.1396A>T | ENSP00000356068.1:p.Met466Leu | |
| ENST00000367104.7:c.1396A>T | ENSP00000356071.3:p.Met466Leu | |
| ENST00000435180.5:c.121A>T | ENSP00000391168.1:p.Met41Leu | |
| ENST00000606965.5:c.1194+1295A>T | ENSP00000475808.1:n.1194+1295A>T | |
| ENST00000607071.5:c.*1330A>T | ENSP00000475855.1:n.*1330A>T | |
| ENST00000607742.5:c.*1230A>T | ENSP00000475523.1:n.*1230A>T | |
| NM_032861.3:c.1396A>T | NP_116250.3:p.Met466Leu | |
| NR_073096.1:n.1336+1295A>T | ||
| XM_006715586.1:c.1186A>T | XP_006715649.1:p.Met396Leu | |
| XM_011536196.1:c.1375A>T | XP_011534498.1:p.Met459Leu | |
| XM_011536197.1:c.1282A>T | XP_011534499.1:p.Met428Leu | |
| XM_011536198.1:c.1186A>T | XP_011534500.1:p.Met396Leu | |
| XR_942606.1:n.1347A>T | ||
| XM_006715586.3:c.1186A>T | XP_006715649.1:p.Met396Leu | |
| XM_011536196.3:c.1375A>T | XP_011534498.1:p.Met459Leu | |
| XM_011536198.3:c.1186A>T | XP_011534500.1:p.Met396Leu | |
| XM_024446573.1:c.1396A>T | XP_024302341.1:p.Met466Leu | |
| XR_001743697.2:n.1427A>T | ||
| XR_942606.2:n.1478A>T | ||
| NM_032861.4:c.1396A>T MANE Select | NP_116250.3:p.Met466Leu | |
| NR_073096.2:n.1318+1295A>T |