Linked Data
ClinVar Variation Id:
3152131
ClinVar RCV Id:
RCV004441066
dbSNP Id:
rs369755282
ExAC:
20:35651151 A / G
gnomAD v2:
20-35651151-A-G
gnomAD v3:
20-37022748-A-G
gnomAD v4:
20-37022748-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.37022748A>G , CM000682.2:g.37022748A>G | GRCh38 |
| NC_000020.10:g.35651151A>G , CM000682.1:g.35651151A>G | GRCh37 |
| NC_000020.9:g.35084565A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373664.8:c.2461T>C MANE Select | ENSP00000362768.3:p.Trp821Arg | |
| ENST00000344359.7:c.2461T>C | ENSP00000343646.3:p.Trp821Arg | |
| ENST00000373664.7:c.2461T>C | ENSP00000362768.3:p.Trp821Arg | |
| NM_002895.3:c.2461T>C | NP_002886.2:p.Trp821Arg | |
| NM_183404.2:c.2461T>C | NP_899662.1:p.Trp821Arg | |
| XM_006723842.1:c.1945T>C | XP_006723905.1:p.Trp649Arg | |
| XM_011528955.1:c.2461T>C | XP_011527257.1:p.Trp821Arg | |
| XM_011528956.1:c.2224T>C | XP_011527258.1:p.Trp742Arg | |
| XM_011528957.1:c.2149T>C | XP_011527259.1:p.Trp717Arg | |
| XM_011528958.1:c.*47T>C | XP_011527260.1:n.*47T>C | |
| XM_011528959.1:c.1180T>C | XP_011527261.1:p.Trp394Arg | |
| NM_001323281.1:c.1180T>C | NP_001310210.1:p.Trp394Arg | |
| NM_001323282.1:c.1180T>C | NP_001310211.1:p.Trp394Arg | |
| NM_002895.4:c.2461T>C | NP_002886.2:p.Trp821Arg | |
| NM_183404.3:c.2461T>C | NP_899662.1:p.Trp821Arg | |
| XM_006723842.3:c.1945T>C | XP_006723905.1:p.Trp649Arg | |
| XM_017027992.1:c.2149T>C | XP_016883481.1:p.Trp717Arg | |
| XM_024451956.1:c.2572T>C | XP_024307724.1:p.Trp858Arg | |
| XM_024451957.1:c.2572T>C | XP_024307725.1:p.Trp858Arg | |
| XM_024451958.1:c.*47T>C | XP_024307726.1:n.*47T>C | |
| NM_001323281.2:c.1180T>C | NP_001310210.1:p.Trp394Arg | |
| NM_001323282.2:c.1180T>C | NP_001310211.1:p.Trp394Arg | |
| NM_002895.5:c.2461T>C MANE Select | NP_002886.2:p.Trp821Arg | |
| NM_183404.4:c.2461T>C | NP_899662.1:p.Trp821Arg |