Linked Data
ClinVar Variation Id:
1157330
ClinVar RCV Id:
RCV001500349
dbSNP Id:
rs569907220
gnomAD v2:
4-123664142-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122742987G>A , CM000666.2:g.122742987G>A | GRCh38 |
| NC_000004.11:g.123664142G>A , CM000666.1:g.123664142G>A | GRCh37 |
| NC_000004.10:g.123883592G>A | NCBI36 |
| NG_021203.1:g.15286G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314218.8:c.1095G>A MANE Select | ENSP00000319062.3:p.Glu365= | |
| ENST00000314218.7:c.1095G>A | ENSP00000319062.3:p.Glu365= | |
| ENST00000542236.5:c.1095G>A | ENSP00000438273.1:p.Glu365= | |
| NM_001178007.1:c.1095G>A | NP_001171478.1:p.Glu365= | |
| NM_152618.2:c.1095G>A | NP_689831.2:p.Glu365= | |
| XM_011531680.1:c.1095G>A | XP_011529982.1:p.Glu365= | |
| XM_011531680.2:c.1095G>A | XP_011529982.1:p.Glu365= | |
| XM_017007831.1:c.1095G>A | XP_016863320.1:p.Glu365= | |
| NM_152618.3:c.1095G>A MANE Select | NP_689831.2:p.Glu365= | |
| NM_001178007.2:c.1095G>A | NP_001171478.1:p.Glu365= |