Linked Data
ClinVar Variation Id:
31166
ClinVar RCV Id:
RCV000032280
RCV000199616
RCV000442312
RCV000763295
RCV001095758
RCV001192673
RCV001849282
RCV002251926
RCV002285009
dbSNP Id:
rs138249161
ExAC:
12:106826199 T / A
gnomAD v2:
12-106826199-T-A
gnomAD v3:
12-106432421-T-A
gnomAD v4:
12-106432421-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.106432421T>A , CM000674.2:g.106432421T>A | GRCh38 |
| NC_000012.11:g.106826199T>A , CM000674.1:g.106826199T>A | GRCh37 |
| NC_000012.10:g.105350329T>A | NCBI36 |
| NG_031837.1:g.79764T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000228347.9:c.1568T>A MANE Select | ENSP00000228347.4:p.Val523Glu | |
| ENST00000228347.8:c.1568T>A | ENSP00000228347.4:p.Val523Glu | |
| ENST00000539066.5:c.1394T>A | ENSP00000445721.1:p.Val465Glu | |
| NM_001160708.1:c.1394T>A | NP_001154180.1:p.Val465Glu | |
| NM_018082.5:c.1568T>A | NP_060552.4:p.Val523Glu | |
| XM_017019621.2:c.1568T>A | XP_016875110.1:p.Val523Glu | |
| NM_018082.6:c.1568T>A MANE Select | NP_060552.4:p.Val523Glu | |
| NM_001160708.2:c.1394T>A | NP_001154180.1:p.Val465Glu |