Linked Data
ClinVar Variation Id:
1130323
ClinVar RCV Id:
RCV001463786
dbSNP Id:
rs546667609
gnomAD v2:
1-100387114-A-G
gnomAD v3:
1-99921558-A-G
gnomAD v4:
1-99921558-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99921558A>G , CM000663.2:g.99921558A>G | GRCh38 |
| NC_000001.10:g.100387114A>G , CM000663.1:g.100387114A>G | GRCh37 |
| NC_000001.9:g.100159702A>G | NCBI36 |
| NG_012865.1:g.76475A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.4506A>G MANE Select | ENSP00000355106.3:p.Glu1502= | |
| ENST00000637337.1:n.4717A>G | ||
| ENST00000294724.8:c.4506A>G | ENSP00000294724.4:p.Glu1502= | |
| ENST00000361302.7:c.4458A>G | ENSP00000354971.3:p.Glu1486= | |
| ENST00000361522.4:c.4455A>G | ENSP00000354635.4:p.Glu1485= | |
| ENST00000361915.7:c.4506A>G | ENSP00000355106.3:p.Glu1502= | |
| ENST00000370161.6:c.4458A>G | ENSP00000359180.2:p.Glu1486= | |
| ENST00000370163.7:c.4506A>G | ENSP00000359182.3:p.Glu1502= | |
| ENST00000370165.7:c.4506A>G | ENSP00000359184.3:p.Glu1502= | |
| NM_000028.2:c.4506A>G | NP_000019.2:p.Glu1502= | |
| NM_000642.2:c.4506A>G | NP_000633.2:p.Glu1502= | |
| NM_000643.2:c.4506A>G | NP_000634.2:p.Glu1502= | |
| NM_000644.2:c.4506A>G | NP_000635.2:p.Glu1502= | |
| NM_000645.2:c.4455A>G | NP_000636.2:p.Glu1485= | |
| NM_000646.2:c.4458A>G | NP_000637.2:p.Glu1486= | |
| XM_005270557.1:c.4506A>G | XP_005270614.1:p.Glu1502= | |
| XR_947626.1:n.1317+2680T>C | ||
| XR_947627.1:n.1206+2680T>C | ||
| XR_947628.1:n.1311+2680T>C | ||
| XR_947630.1:n.1249+2680T>C | ||
| XR_947632.1:n.1135+2680T>C | ||
| XR_947633.1:n.1246+2680T>C | ||
| XR_947634.1:n.660+2680T>C | ||
| XR_947635.1:n.728+2680T>C | ||
| XM_005270557.2:c.4506A>G | XP_005270614.1:p.Glu1502= | |
| XM_017000501.2:c.2766A>G | XP_016855990.1:p.Glu922= | |
| NM_000642.3:c.4506A>G MANE Select | NP_000633.2:p.Glu1502= |