Linked Data
ClinVar Variation Id:
1105724
ClinVar RCV Id:
RCV001430220
dbSNP Id:
rs745317640
ExAC:
11:6414482 T / C
gnomAD v2:
11-6414482-T-C
gnomAD v4:
11-6393252-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6393252T>C , CM000673.2:g.6393252T>C | GRCh38 |
| NC_000011.9:g.6414482T>C , CM000673.1:g.6414482T>C | GRCh37 |
| NC_000011.8:g.6371058T>C | NCBI36 |
| NG_011780.1:g.7828T>C | |
| NG_029615.1:g.31163A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1128T>C MANE Select | ENSP00000340409.4:p.Gly376= | |
| ENST00000342245.8:c.1128T>C | ENSP00000340409.4:p.Gly376= | |
| ENST00000526280.1:c.321-365T>C | ||
| ENST00000527275.5:c.1125T>C | ENSP00000435350.1:p.Gly375= | |
| ENST00000531303.5:c.475T>C | ENSP00000432625.1:p.Ser159Pro | |
| ENST00000533123.5:c.1092-365T>C | ENSP00000435950.1:n.1092-365T>C | |
| ENST00000534405.5:c.1168T>C | ENSP00000434353.1:p.Ser390Pro | |
| NM_000543.4:c.1128T>C | NP_000534.3:p.Gly376= | |
| NM_001007593.2:c.1125T>C | NP_001007594.2:p.Gly375= | |
| XM_005253075.3:c.1128T>C | XP_005253132.1:p.Gly376= | |
| XM_011520303.1:c.1132-365T>C | XP_011518605.1:n.1132-365T>C | |
| XM_011520304.1:c.1132-365T>C | XP_011518606.1:n.1132-365T>C | |
| XR_930886.1:n.1466T>C | ||
| NM_001318087.1:c.1128T>C | NP_001305016.1:p.Gly376= | |
| NM_001318088.1:c.207T>C | NP_001305017.1:p.Gly69= | |
| NM_001365135.1:c.1132-365T>C | NP_001352064.1:n.1132-365T>C | |
| NR_027400.2:n.1277-365T>C | ||
| NR_134502.1:n.660T>C | ||
| XM_011520304.2:c.1132-365T>C | XP_011518606.1:n.1132-365T>C | |
| XR_001747940.2:n.1293T>C | ||
| XR_002957158.1:n.1293T>C | ||
| NM_000543.5:c.1128T>C MANE Select | NP_000534.3:p.Gly376= | |
| NM_001007593.3:c.1125T>C | NP_001007594.2:p.Gly375= | |
| NM_001318087.2:c.1128T>C | NP_001305016.1:p.Gly376= | |
| NM_001318088.2:c.207T>C | NP_001305017.1:p.Gly69= | |
| NM_001365135.2:c.1132-365T>C | NP_001352064.1:n.1132-365T>C | |
| NR_027400.3:n.1217-365T>C | ||
| NR_134502.2:n.600T>C |