Linked Data
ClinVar Variation Id:
2241647
ClinVar RCV Id:
RCV004105357
dbSNP Id:
rs146015204
ExAC:
20:35690510 T / C
gnomAD v2:
20-35690510-T-C
gnomAD v3:
20-37062107-T-C
gnomAD v4:
20-37062107-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.37062107T>C , CM000682.2:g.37062107T>C | GRCh38 |
| NC_000020.10:g.35690510T>C , CM000682.1:g.35690510T>C | GRCh37 |
| NC_000020.9:g.35123924T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373664.8:c.1060A>G MANE Select | ENSP00000362768.3:p.Asn354Asp | |
| ENST00000344359.7:c.1060A>G | ENSP00000343646.3:p.Asn354Asp | |
| ENST00000373664.7:c.1060A>G | ENSP00000362768.3:p.Asn354Asp | |
| ENST00000525052.1:c.474A>G | ||
| NM_002895.3:c.1060A>G | NP_002886.2:p.Asn354Asp | |
| NM_183404.2:c.1060A>G | NP_899662.1:p.Asn354Asp | |
| XM_006723842.1:c.544A>G | XP_006723905.1:p.Asn182Asp | |
| XM_011528955.1:c.1060A>G | XP_011527257.1:p.Asn354Asp | |
| XM_011528956.1:c.823A>G | XP_011527258.1:p.Asn275Asp | |
| XM_011528957.1:c.748A>G | XP_011527259.1:p.Asn250Asp | |
| XM_011528958.1:c.1060A>G | XP_011527260.1:p.Asn354Asp | |
| XM_011528959.1:c.-360A>G | XP_011527261.1:n.-360A>G | |
| NM_001323281.1:c.-360A>G | NP_001310210.1:n.-360A>G | |
| NM_001323282.1:c.-360A>G | NP_001310211.1:n.-360A>G | |
| NM_002895.4:c.1060A>G | NP_002886.2:p.Asn354Asp | |
| NM_183404.3:c.1060A>G | NP_899662.1:p.Asn354Asp | |
| XM_006723842.3:c.544A>G | XP_006723905.1:p.Asn182Asp | |
| XM_017027992.1:c.748A>G | XP_016883481.1:p.Asn250Asp | |
| XM_024451956.1:c.1171A>G | XP_024307724.1:p.Asn391Asp | |
| XM_024451957.1:c.1171A>G | XP_024307725.1:p.Asn391Asp | |
| XM_024451958.1:c.1171A>G | XP_024307726.1:p.Asn391Asp | |
| NM_001323281.2:c.-360A>G | NP_001310210.1:n.-360A>G | |
| NM_001323282.2:c.-360A>G | NP_001310211.1:n.-360A>G | |
| NM_002895.5:c.1060A>G MANE Select | NP_002886.2:p.Asn354Asp | |
| NM_183404.4:c.1060A>G | NP_899662.1:p.Asn354Asp |