Linked Data
ClinVar Variation Id:
504766
dbSNP Id:
rs146747080
ExAC:
3:53757924 G / A
gnomAD v2:
3-53757924-G-A
gnomAD v3:
3-53723897-G-A
gnomAD v4:
3-53723897-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53723897G>A , CM000665.2:g.53723897G>A | GRCh38 |
| NC_000003.11:g.53757924G>A , CM000665.1:g.53757924G>A | GRCh37 |
| NC_000003.10:g.53732964G>A | NCBI36 |
| NG_032999.1:g.233849G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000481478.2:c.2058G>A | ENSP00000418014.2:p.Leu686= | |
| ENST00000636627.2:c.2058G>A | ENSP00000490889.2:p.Leu686= | |
| ENST00000288139.11:c.2058G>A MANE Plus Clinical | ENSP00000288139.3:p.Leu686= | |
| ENST00000350061.11:c.1998G>A MANE Select | ENSP00000288133.5:p.Leu666= | |
| ENST00000422281.7:c.1998G>A | ENSP00000409174.2:p.Leu666= | |
| ENST00000636570.1:c.1998G>A | ENSP00000490183.1:p.Leu666= | |
| ENST00000636627.1:c.1298G>A | ||
| ENST00000636938.1:c.1998G>A | ENSP00000490039.1:p.Leu666= | |
| ENST00000637424.1:c.2070G>A | ENSP00000489769.1:p.Leu690= | |
| ENST00000640483.1:c.2031G>A | ENSP00000491921.1:p.Leu677= | |
| ENST00000288139.8:c.2058G>A | ENSP00000288139.3:p.Leu686= | |
| ENST00000350061.9:c.1998G>A | ENSP00000288133.5:p.Leu666= | |
| ENST00000422281.6:c.1998G>A | ENSP00000409174.2:p.Leu666= | |
| ENST00000481478.1:c.1077G>A | ENSP00000418014.1:p.Leu359= | |
| NM_000720.3:c.2058G>A | NP_000711.1:p.Leu686= | |
| NM_001128839.2:c.1998G>A | NP_001122311.1:p.Leu666= | |
| NM_001128840.2:c.1998G>A | NP_001122312.1:p.Leu666= | |
| XM_005265448.2:c.1998G>A | XP_005265505.1:p.Leu666= | |
| XM_011534094.1:c.2169G>A | XP_011532396.1:p.Leu723= | |
| XM_011534095.1:c.2058G>A | XP_011532397.1:p.Leu686= | |
| XM_011534096.1:c.2109G>A | XP_011532398.1:p.Leu703= | |
| XM_011534097.1:c.1632G>A | XP_011532399.1:p.Leu544= | |
| XM_011534098.1:c.1632G>A | XP_011532400.1:p.Leu544= | |
| XM_011534099.1:c.1257G>A | XP_011532401.1:p.Leu419= | |
| XM_011534100.1:c.2109G>A | XP_011532402.1:p.Leu703= | |
| XM_005265448.3:c.1998G>A | XP_005265505.1:p.Leu666= | |
| XM_011534094.2:c.2169G>A | XP_011532396.1:p.Leu723= | |
| XM_011534096.2:c.2109G>A | XP_011532398.1:p.Leu703= | |
| XM_011534097.2:c.1632G>A | XP_011532399.1:p.Leu544= | |
| XM_011534099.2:c.1257G>A | XP_011532401.1:p.Leu419= | |
| XM_011534100.2:c.2109G>A | XP_011532402.1:p.Leu703= | |
| XM_017007137.1:c.2169G>A | XP_016862626.1:p.Leu723= | |
| XM_017007138.1:c.2169G>A | XP_016862627.1:p.Leu723= | |
| XM_017007139.1:c.2169G>A | XP_016862628.1:p.Leu723= | |
| XM_017007140.1:c.2109G>A | XP_016862629.1:p.Leu703= | |
| XM_017007141.1:c.2109G>A | XP_016862630.1:p.Leu703= | |
| XM_017007142.1:c.2169G>A | XP_016862631.1:p.Leu723= | |
| XM_017007143.1:c.2169G>A | XP_016862632.1:p.Leu723= | |
| XM_017007144.1:c.2169G>A | XP_016862633.1:p.Leu723= | |
| XM_017007145.1:c.2169G>A | XP_016862634.1:p.Leu723= | |
| NM_001128840.3:c.1998G>A MANE Select | NP_001122312.1:p.Leu666= | |
| NM_000720.4:c.2058G>A MANE Plus Clinical | NP_000711.1:p.Leu686= | |
| NM_001128839.3:c.1998G>A | NP_001122311.1:p.Leu666= |