Linked Data
ClinVar Variation Id:
1268785
ClinVar RCV Id:
RCV001679890
dbSNP Id:
rs11564475
gnomAD v2:
3-41280033-A-G
gnomAD v3:
3-41238542-A-G
gnomAD v4:
3-41238542-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.41238542A>G , CM000665.2:g.41238542A>G | GRCh38 |
| NC_000003.11:g.41280033A>G , CM000665.1:g.41280033A>G | GRCh37 |
| NC_000003.10:g.41255037A>G | NCBI36 |
| NG_013302.1:g.44092A>G | |
| NG_013302.2:g.44092A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349496.11:c.2137+466A>G MANE Select | ENSP00000344456.5:n.2137+466A>G | |
| ENST00000396185.8:c.2137+466A>G | ENSP00000379488.3:n.2137+466A>G | |
| ENST00000405570.6:c.2137+466A>G | ENSP00000385604.1:n.2137+466A>G | |
| ENST00000431914.6:c.2137+466A>G | ENSP00000412219.2:n.2137+466A>G | |
| ENST00000433400.6:c.2137+466A>G | ENSP00000387455.2:n.2137+466A>G | |
| ENST00000441708.2:c.2137+466A>G | ENSP00000401599.2:n.2137+466A>G | |
| ENST00000450969.6:c.2137+466A>G | ENSP00000409302.2:n.2137+466A>G | |
| ENST00000453024.6:c.2116+466A>G | ENSP00000411226.1:n.2116+466A>G | |
| ENST00000471014.2:c.230+466A>G | ||
| ENST00000642248.1:c.2137+466A>G | ENSP00000495244.1:n.2137+466A>G | |
| ENST00000642315.1:c.2137+466A>G | ENSP00000495076.1:n.2137+466A>G | |
| ENST00000642426.1:c.2137+466A>G | ENSP00000495719.1:n.2137+466A>G | |
| ENST00000642836.1:c.2116+466A>G | ENSP00000496295.1:n.2116+466A>G | |
| ENST00000642886.1:c.2026+466A>G | ENSP00000496020.1:n.2026+466A>G | |
| ENST00000642986.1:c.2005+466A>G | ENSP00000494422.1:n.2005+466A>G | |
| ENST00000642992.1:c.2137+466A>G | ENSP00000496385.1:n.2137+466A>G | |
| ENST00000643031.1:c.2137+466A>G | ENSP00000495450.1:n.2137+466A>G | |
| ENST00000643052.1:n.4066+466A>G | ||
| ENST00000643297.1:c.2137+466A>G | ENSP00000494677.1:n.2137+466A>G | |
| ENST00000643541.1:c.2137+466A>G | ENSP00000494411.1:n.2137+466A>G | |
| ENST00000643977.1:c.2137+466A>G | ENSP00000494053.1:n.2137+466A>G | |
| ENST00000643992.1:c.2137+466A>G | ENSP00000493610.1:n.2137+466A>G | |
| ENST00000644501.1:n.343+466A>G | ||
| ENST00000644524.1:c.2116+466A>G | ENSP00000494780.1:n.2116+466A>G | |
| ENST00000644678.1:c.2116+466A>G | ENSP00000495794.1:n.2116+466A>G | |
| ENST00000644867.1:c.2137+466A>G | ENSP00000495992.1:n.2137+466A>G | |
| ENST00000644873.1:c.2134+466A>G | ENSP00000496511.1:n.2134+466A>G | |
| ENST00000645210.1:c.2137+466A>G | ENSP00000496180.1:n.2137+466A>G | |
| ENST00000645276.1:c.2143+466A>G | ENSP00000494654.1:n.2143+466A>G | |
| ENST00000645305.1:n.2541+466A>G | ||
| ENST00000645320.1:c.2137+466A>G | ENSP00000495360.1:n.2137+466A>G | |
| ENST00000645493.1:c.2116+466A>G | ENSP00000494467.1:n.2116+466A>G | |
| ENST00000645900.1:c.2116+466A>G | ENSP00000495286.1:n.2116+466A>G | |
| ENST00000645982.1:c.2137+466A>G | ENSP00000494845.1:n.2137+466A>G | |
| ENST00000646074.1:c.*64+97A>G | ENSP00000494263.1:n.*64+97A>G | |
| ENST00000646116.1:c.2116+466A>G | ENSP00000495426.1:n.2116+466A>G | |
| ENST00000646174.1:c.2116+466A>G | ENSP00000495161.1:n.2116+466A>G | |
| ENST00000646369.1:c.2137+466A>G | ENSP00000494914.1:n.2137+466A>G | |
| ENST00000646381.1:c.2116+466A>G | ENSP00000496067.1:n.2116+466A>G | |
| ENST00000646725.1:c.2137+466A>G | ENSP00000496021.1:n.2137+466A>G | |
| ENST00000647021.1:n.2658+466A>G | ||
| ENST00000647264.1:c.2050+466A>G | ENSP00000494849.1:n.2050+466A>G | |
| ENST00000647390.1:c.2137+466A>G | ENSP00000493533.1:n.2137+466A>G | |
| ENST00000647413.1:c.2137+466A>G | ENSP00000493583.1:n.2137+466A>G | |
| ENST00000349496.9:c.2137+466A>G | ENSP00000344456.5:n.2137+466A>G | |
| ENST00000396183.7:c.2137+466A>G | ENSP00000379486.3:n.2137+466A>G | |
| ENST00000396185.7:c.2137+466A>G | ENSP00000379488.3:n.2137+466A>G | |
| ENST00000405570.5:c.2137+466A>G | ENSP00000385604.1:n.2137+466A>G | |
| ENST00000453024.5:c.2116+466A>G | ENSP00000411226.1:n.2116+466A>G | |
| NM_001098209.1:c.2137+466A>G | NP_001091679.1:n.2137+466A>G | |
| NM_001098210.1:c.2137+466A>G | NP_001091680.1:n.2137+466A>G | |
| NM_001904.3:c.2137+466A>G | NP_001895.1:n.2137+466A>G | |
| XM_005264886.2:c.2137+466A>G | XP_005264943.1:n.2137+466A>G | |
| XM_006712983.1:c.2116+466A>G | XP_006713046.1:n.2116+466A>G | |
| XM_006712984.1:c.2116+466A>G | XP_006713047.1:n.2116+466A>G | |
| XM_006712985.1:c.2077-1118A>G | XP_006713048.1:n.2077-1118A>G | |
| NM_001330729.1:c.2116+466A>G | NP_001317658.1:n.2116+466A>G | |
| XM_006712983.2:c.2116+466A>G | XP_006713046.1:n.2116+466A>G | |
| XM_017005738.1:c.2137+466A>G | XP_016861227.1:n.2137+466A>G | |
| XM_024453356.1:c.2137+466A>G | XP_024309124.1:n.2137+466A>G | |
| XM_024453357.1:c.2137+466A>G | XP_024309125.1:n.2137+466A>G | |
| XM_024453358.1:c.2137+466A>G | XP_024309126.1:n.2137+466A>G | |
| XM_024453359.1:c.2116+466A>G | XP_024309127.1:n.2116+466A>G | |
| XM_024453360.1:c.2116+466A>G | XP_024309128.1:n.2116+466A>G | |
| NM_001904.4:c.2137+466A>G MANE Select | NP_001895.1:n.2137+466A>G | |
| NM_001098209.2:c.2137+466A>G | NP_001091679.1:n.2137+466A>G | |
| NM_001098210.2:c.2137+466A>G | NP_001091680.1:n.2137+466A>G | |
| NM_001330729.2:c.2116+466A>G | NP_001317658.1:n.2116+466A>G |