Linked Data
ClinVar Variation Id:
354156
ClinVar RCV Id:
RCV000297237
dbSNP Id:
rs886060757
gnomAD v2:
5-76645366-A-G
gnomAD v3:
5-77349541-A-G
gnomAD v4:
5-77349541-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.77349541A>G , CM000667.2:g.77349541A>G | GRCh38 |
| NC_000005.9:g.76645366A>G , CM000667.1:g.76645366A>G | GRCh37 |
| NC_000005.8:g.76681122A>G | NCBI36 |
| NG_023364.1:g.143661A>G | |
| NG_023364.2:g.174290A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264917.10:c.999A>G MANE Select | ENSP00000264917.6:p.Thr333= | |
| ENST00000646262.1:c.627A>G | ENSP00000493971.1:p.Thr209= | |
| ENST00000264917.9:c.999A>G | ENSP00000264917.5:p.Thr333= | |
| ENST00000333194.8:c.999A>G | ENSP00000331336.4:p.Thr333= | |
| ENST00000340978.7:c.877-1524A>G | ENSP00000345446.3:n.877-1524A>G | |
| ENST00000342343.8:c.939A>G | ENSP00000345646.4:p.Thr313= | |
| ENST00000346042.7:c.876+4610A>G | ENSP00000330428.3:n.876+4610A>G | |
| ENST00000503963.1:c.285A>G | ENSP00000422861.1:p.Thr95= | |
| NM_001029851.2:c.876+4610A>G | NP_001025022.1:n.876+4610A>G | |
| NM_001029852.2:c.999A>G | NP_001025023.1:p.Thr333= | |
| NM_001029853.2:c.939A>G | NP_001025024.1:p.Thr313= | |
| NM_001029854.2:c.877-1524A>G | NP_001025025.1:n.877-1524A>G | |
| NM_003719.3:c.999A>G | NP_003710.1:p.Thr333= | |
| XM_005248621.3:c.996A>G | XP_005248678.1:p.Thr332= | |
| XM_005248623.3:c.696A>G | XP_005248680.1:p.Thr232= | |
| XM_005248624.3:c.693A>G | XP_005248681.1:p.Thr231= | |
| XM_006714725.2:c.1062A>G | XP_006714788.1:p.Thr354= | |
| XM_006714726.2:c.1059A>G | XP_006714789.1:p.Thr353= | |
| XM_011543699.1:c.1062A>G | XP_011542001.1:p.Thr354= | |
| XM_011543700.1:c.939+4610A>G | XP_011542002.1:n.939+4610A>G | |
| XM_011543701.1:c.759A>G | XP_011542003.1:p.Thr253= | |
| XM_011543702.1:c.666A>G | XP_011542004.1:p.Thr222= | |
| XM_011543703.1:c.684A>G | XP_011542005.1:p.Thr228= | |
| XM_011543704.1:c.285A>G | XP_011542006.1:p.Thr95= | |
| NM_001349748.1:c.996A>G | NP_001336677.1:p.Thr332= | |
| NM_001349749.1:c.1062A>G | NP_001336678.1:p.Thr354= | |
| NM_001349750.1:c.759A>G | NP_001336679.1:p.Thr253= | |
| NM_001349751.1:c.996A>G | NP_001336680.1:p.Thr332= | |
| NM_001349752.1:c.693A>G | NP_001336681.1:p.Thr231= | |
| NM_001349753.1:c.627A>G | NP_001336682.1:p.Thr209= | |
| XM_005248623.4:c.696A>G | XP_005248680.1:p.Thr232= | |
| XM_006714726.3:c.1059A>G | XP_006714789.1:p.Thr353= | |
| XM_011543699.3:c.1062A>G | XP_011542001.1:p.Thr354= | |
| XM_011543700.3:c.939+4610A>G | XP_011542002.1:n.939+4610A>G | |
| XM_011543704.2:c.285A>G | XP_011542006.1:p.Thr95= | |
| XM_017010005.2:c.873+4610A>G | XP_016865494.1:n.873+4610A>G | |
| XM_017010007.2:c.696A>G | XP_016865496.1:p.Thr232= | |
| XM_017010008.2:c.573+4610A>G | XP_016865497.1:n.573+4610A>G | |
| XM_024446253.1:c.627A>G | XP_024302021.1:p.Thr209= | |
| XM_024446254.1:c.504+4610A>G | XP_024302022.1:n.504+4610A>G | |
| NM_001029851.4:c.876+4610A>G | NP_001025022.1:n.876+4610A>G | |
| NM_001029852.4:c.999A>G | NP_001025023.1:p.Thr333= | |
| NM_001029853.4:c.939A>G | NP_001025024.1:p.Thr313= | |
| NM_001029854.4:c.877-1524A>G | NP_001025025.1:n.877-1524A>G | |
| NM_001349748.3:c.996A>G | NP_001336677.1:p.Thr332= | |
| NM_001349749.3:c.1062A>G | NP_001336678.1:p.Thr354= | |
| NM_001349750.3:c.759A>G | NP_001336679.1:p.Thr253= | |
| NM_001349751.3:c.996A>G | NP_001336680.1:p.Thr332= | |
| NM_001349752.3:c.693A>G | NP_001336681.1:p.Thr231= | |
| NM_001349753.2:c.627A>G | NP_001336682.1:p.Thr209= | |
| NM_001376062.1:c.696A>G | NP_001362991.1:p.Thr232= | |
| NM_001376063.1:c.999A>G | NP_001362992.1:p.Thr333= | |
| NM_001376064.1:c.999A>G | NP_001362993.1:p.Thr333= | |
| NM_001376065.1:c.873+4610A>G | NP_001362994.1:n.873+4610A>G | |
| NM_001376066.1:c.636A>G | NP_001362995.1:p.Thr212= | |
| NM_001376067.1:c.627A>G | NP_001362996.1:p.Thr209= | |
| NM_001376068.1:c.627A>G | NP_001362997.1:p.Thr209= | |
| NM_001376069.1:c.634-1524A>G | NP_001362998.1:n.634-1524A>G | |
| NM_001376070.1:c.574-1524A>G | NP_001362999.1:n.574-1524A>G | |
| NM_001376071.1:c.571-1524A>G | NP_001363000.1:n.571-1524A>G | |
| NM_001376072.1:c.696A>G | NP_001363001.1:p.Thr232= | |
| NM_001376073.1:c.573+4610A>G | NP_001363002.1:n.573+4610A>G | |
| NM_001376074.1:c.513+4610A>G | NP_001363003.1:n.513+4610A>G | |
| NM_001376075.1:c.504+4610A>G | NP_001363004.1:n.504+4610A>G | |
| NM_003719.5:c.999A>G MANE Select | NP_003710.1:p.Thr333= |