Linked Data
ClinVar Variation Id:
797176
ClinVar RCV Id:
RCV000980618
dbSNP Id:
rs373341502
ExAC:
1:150483938 G / A
gnomAD v2:
1-150483938-G-A
gnomAD v4:
1-150511462-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150511462G>A , CM000663.2:g.150511462G>A | GRCh38 |
| NC_000001.10:g.150483938G>A , CM000663.1:g.150483938G>A | GRCh37 |
| NC_000001.9:g.148750562G>A | NCBI36 |
| NG_012062.1:g.8452G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369047.9:c.714G>A MANE Select | ENSP00000358043.4:p.Glu238= | |
| ENST00000346569.6:c.708+264G>A | ENSP00000271630.6:n.708+264G>A | |
| ENST00000369047.8:c.714G>A | ENSP00000358043.4:p.Glu238= | |
| ENST00000369049.8:c.795G>A | ENSP00000358045.4:p.Glu265= | |
| ENST00000470432.5:n.2071G>A | ||
| NM_001202858.1:c.795G>A | NP_001189787.1:p.Glu265= | |
| NM_004425.3:c.714G>A | NP_004416.2:p.Glu238= | |
| NM_022664.2:c.708+264G>A | NP_073155.2:n.708+264G>A | |
| NM_004425.4:c.714G>A MANE Select | NP_004416.2:p.Glu238= | |
| NM_001202858.2:c.795G>A | NP_001189787.1:p.Glu265= | |
| NM_022664.3:c.708+264G>A | NP_073155.2:n.708+264G>A |