Linked Data
ClinVar Variation Id:
226477
dbSNP Id:
rs34388124
ExAC:
3:53844184 G / A
gnomAD v2:
3-53844184-G-A
gnomAD v3:
3-53810157-G-A
gnomAD v4:
3-53810157-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53810157G>A , CM000665.2:g.53810157G>A | GRCh38 |
| NC_000003.11:g.53844184G>A , CM000665.1:g.53844184G>A | GRCh37 |
| NC_000003.10:g.53819224G>A | NCBI36 |
| NG_032999.1:g.320109G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481478.2:c.6111G>A | ENSP00000418014.2:p.Pro2037= | |
| ENST00000636581.2:n.1440G>A | ||
| ENST00000636633.2:n.3050G>A | ||
| ENST00000636999.2:n.1486G>A | ||
| ENST00000288139.11:c.6111G>A MANE Plus Clinical | ENSP00000288139.3:p.Pro2037= | |
| ENST00000350061.11:c.6051G>A MANE Select | ENSP00000288133.5:p.Pro2017= | |
| ENST00000422281.7:c.5979G>A | ENSP00000409174.2:p.Pro1993= | |
| ENST00000636448.1:c.2172G>A | ||
| ENST00000636570.1:c.6006G>A | ENSP00000490183.1:p.Pro2002= | |
| ENST00000636581.1:n.1440G>A | ||
| ENST00000636629.1:n.1423G>A | ||
| ENST00000636633.1:n.3050G>A | ||
| ENST00000636999.1:n.1478G>A | ||
| ENST00000637424.1:c.6078G>A | ENSP00000489769.1:p.Pro2026= | |
| ENST00000288139.8:c.6111G>A | ENSP00000288139.3:p.Pro2037= | |
| ENST00000350061.9:c.6051G>A | ENSP00000288133.5:p.Pro2017= | |
| ENST00000422281.6:c.5979G>A | ENSP00000409174.2:p.Pro1993= | |
| ENST00000481478.1:c.5130G>A | ENSP00000418014.1:p.Pro1710= | |
| NM_000720.3:c.6111G>A | NP_000711.1:p.Pro2037= | |
| NM_001128839.2:c.5979G>A | NP_001122311.1:p.Pro1993= | |
| NM_001128840.2:c.6051G>A | NP_001122312.1:p.Pro2017= | |
| XM_005265448.2:c.6006G>A | XP_005265505.1:p.Pro2002= | |
| XM_011534094.1:c.6306G>A | XP_011532396.1:p.Pro2102= | |
| XM_011534095.1:c.6195G>A | XP_011532397.1:p.Pro2065= | |
| XM_011534096.1:c.6117G>A | XP_011532398.1:p.Pro2039= | |
| XM_011534097.1:c.5769G>A | XP_011532399.1:p.Pro1923= | |
| XM_011534098.1:c.5769G>A | XP_011532400.1:p.Pro1923= | |
| XM_011534099.1:c.5394G>A | XP_011532401.1:p.Pro1798= | |
| XM_011534100.1:c.6201G>A | XP_011532402.1:p.Pro2067= | |
| XM_005265448.3:c.6006G>A | XP_005265505.1:p.Pro2002= | |
| XM_011534094.2:c.6306G>A | XP_011532396.1:p.Pro2102= | |
| XM_011534096.2:c.6117G>A | XP_011532398.1:p.Pro2039= | |
| XM_011534097.2:c.5769G>A | XP_011532399.1:p.Pro1923= | |
| XM_011534099.2:c.5394G>A | XP_011532401.1:p.Pro1798= | |
| XM_011534100.2:c.6201G>A | XP_011532402.1:p.Pro2067= | |
| XM_017007137.1:c.6306G>A | XP_016862626.1:p.Pro2102= | |
| XM_017007138.1:c.6303G>A | XP_016862627.1:p.Pro2101= | |
| XM_017007139.1:c.6279G>A | XP_016862628.1:p.Pro2093= | |
| XM_017007140.1:c.6246G>A | XP_016862629.1:p.Pro2082= | |
| XM_017007141.1:c.6246G>A | XP_016862630.1:p.Pro2082= | |
| XM_017007142.1:c.6222G>A | XP_016862631.1:p.Pro2074= | |
| XM_017007143.1:c.6222G>A | XP_016862632.1:p.Pro2074= | |
| XM_017007144.1:c.6222G>A | XP_016862633.1:p.Pro2074= | |
| XM_017007145.1:c.6177G>A | XP_016862634.1:p.Pro2059= | |
| NM_001128840.3:c.6051G>A MANE Select | NP_001122312.1:p.Pro2017= | |
| NM_000720.4:c.6111G>A MANE Plus Clinical | NP_000711.1:p.Pro2037= | |
| NM_001128839.3:c.5979G>A | NP_001122311.1:p.Pro1993= |