Linked Data
ClinVar Variation Id:
288073
dbSNP Id:
rs372287825
gnomAD v3:
11-6393230-A-G
gnomAD v4:
11-6393230-A-G
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6393230A>G , CM000673.2:g.6393230A>G | GRCh38 |
| NC_000011.9:g.6414460A>G , CM000673.1:g.6414460A>G | GRCh37 |
| NC_000011.8:g.6371036A>G | NCBI36 |
| NG_011780.1:g.7806A>G | |
| NG_029615.1:g.31185T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1106A>G MANE Select | ENSP00000340409.4:p.Tyr369Cys | |
| ENST00000342245.8:c.1106A>G | ENSP00000340409.4:p.Tyr369Cys | |
| ENST00000526280.1:c.321-387A>G | ||
| ENST00000527275.5:c.1103A>G | ENSP00000435350.1:p.Tyr368Cys | |
| ENST00000531303.5:c.453A>G | ENSP00000432625.1:p.Leu151= | |
| ENST00000533123.5:c.1092-387A>G | ENSP00000435950.1:n.1092-387A>G | |
| ENST00000534405.5:c.1146A>G | ENSP00000434353.1:p.Leu382= | |
| NM_000543.4:c.1106A>G | NP_000534.3:p.Tyr369Cys | |
| NM_001007593.2:c.1103A>G | NP_001007594.2:p.Tyr368Cys | |
| XM_005253075.3:c.1106A>G | XP_005253132.1:p.Tyr369Cys | |
| XM_011520303.1:c.1132-387A>G | XP_011518605.1:n.1132-387A>G | |
| XM_011520304.1:c.1132-387A>G | XP_011518606.1:n.1132-387A>G | |
| XR_930886.1:n.1444A>G | ||
| NM_001318087.1:c.1106A>G | NP_001305016.1:p.Tyr369Cys | |
| NM_001318088.1:c.185A>G | NP_001305017.1:p.Tyr62Cys | |
| NM_001365135.1:c.1132-387A>G | NP_001352064.1:n.1132-387A>G | |
| NR_027400.2:n.1277-387A>G | ||
| NR_134502.1:n.638A>G | ||
| XM_011520304.2:c.1132-387A>G | XP_011518606.1:n.1132-387A>G | |
| XR_001747940.2:n.1271A>G | ||
| XR_002957158.1:n.1271A>G | ||
| NM_000543.5:c.1106A>G MANE Select | NP_000534.3:p.Tyr369Cys | |
| NM_001007593.3:c.1103A>G | NP_001007594.2:p.Tyr368Cys | |
| NM_001318087.2:c.1106A>G | NP_001305016.1:p.Tyr369Cys | |
| NM_001318088.2:c.185A>G | NP_001305017.1:p.Tyr62Cys | |
| NM_001365135.2:c.1132-387A>G | NP_001352064.1:n.1132-387A>G | |
| NR_027400.3:n.1217-387A>G | ||
| NR_134502.2:n.578A>G |