Linked Data
ClinVar Variation Id:
229244
ClinVar RCV Id:
RCV000217793
dbSNP Id:
rs200941736
ExAC:
10:81371716 C / G
gnomAD v2:
10-81371716-C-G
gnomAD v3:
10-79611960-C-G
gnomAD v4:
10-79611960-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79611960C>G , CM000672.2:g.79611960C>G | GRCh38 |
| NC_000010.10:g.81371716C>G , CM000672.1:g.81371716C>G | GRCh37 |
| NG_021189.1:g.6022C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398636.8:c.135C>G MANE Select | ENSP00000381633.3:p.Asp45Glu | |
| ENST00000398636.7:c.135C>G | ENSP00000381633.3:p.Asp45Glu | |
| ENST00000419470.6:c.180C>G | ENSP00000397082.2:p.Asp60Glu | |
| ENST00000428376.6:c.135C>G | ENSP00000411102.2:p.Asp45Glu | |
| ENST00000429958.5:c.135C>G | ENSP00000395527.1:p.Asp45Glu | |
| ENST00000439264.1:c.135C>G | ENSP00000401649.1:p.Asp45Glu | |
| NM_001093770.2:c.180C>G | NP_001087239.2:p.Asp60Glu | |
| NM_001164644.1:c.135C>G | NP_001158116.1:p.Asp45Glu | |
| NM_001164645.1:c.130+50C>G | NP_001158117.1:n.130+50C>G | |
| NM_001164646.1:c.85+50C>G | NP_001158118.1:n.85+50C>G | |
| NM_001164647.1:c.135C>G | NP_001158119.1:p.Asp45Glu | |
| NM_005411.4:c.135C>G | NP_005402.3:p.Asp45Glu | |
| XM_005270062.3:c.135C>G | XP_005270119.1:p.Asp45Glu | |
| XM_006717953.2:c.180C>G | XP_006718016.1:p.Asp60Glu | |
| XM_005270062.5:c.135C>G | XP_005270119.1:p.Asp45Glu | |
| NM_001093770.3:c.180C>G | NP_001087239.2:p.Asp60Glu | |
| NM_001164644.2:c.135C>G | NP_001158116.1:p.Asp45Glu | |
| NM_001164645.2:c.130+50C>G | NP_001158117.1:n.130+50C>G | |
| NM_001164646.2:c.85+50C>G | NP_001158118.1:n.85+50C>G | |
| NM_005411.5:c.135C>G MANE Select | NP_005402.3:p.Asp45Glu |