Linked Data
ClinVar Variation Id:
302648
dbSNP Id:
rs764865890
ExAC:
11:118015830 A / G
gnomAD v2:
11-118015830-A-G
gnomAD v3:
11-118145115-A-G
gnomAD v4:
11-118145115-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118145115A>G , CM000673.2:g.118145115A>G | GRCh38 |
| NC_000011.9:g.118015830A>G , CM000673.1:g.118015830A>G | GRCh37 |
| NC_000011.8:g.117521040A>G | NCBI36 |
| NG_011710.1:g.12801T>C , LRG_330:g.12801T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324727.9:c.176T>C MANE Select | ENSP00000322460.4:p.Phe59Ser | |
| ENST00000324727.8:c.176T>C | ENSP00000322460.4:p.Phe59Ser | |
| ENST00000415030.6:n.319T>C | ||
| ENST00000529878.1:c.62-3779T>C | ENSP00000436343.1:n.62-3779T>C | |
| ENST00000532138.1:n.586T>C | ||
| NM_001142348.1:c.62-3779T>C | NP_001135820.1:n.62-3779T>C | |
| NM_001142349.1:c.-155T>C | NP_001135821.1:n.-155T>C | |
| NM_174934.3:c.176T>C , LRG_330t1:c.176T>C | NP_777594.1:p.Phe59Ser | |
| NR_024527.1:n.355T>C | ||
| NM_001142348.2:c.62-3779T>C | NP_001135820.1:n.62-3779T>C | |
| NM_001142349.2:c.-155T>C | NP_001135821.1:n.-155T>C | |
| NR_024527.2:n.319T>C | ||
| NM_174934.4:c.176T>C MANE Select | NP_777594.1:p.Phe59Ser |