Linked Data
dbSNP Id:
rs10256972
gnomAD v2:
7-1039003-A-C
gnomAD v3:
7-999367-A-C
gnomAD v4:
7-999367-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.999367A>C , CM000669.2:g.999367A>C | GRCh38 |
| NC_000007.13:g.1039003A>C , CM000669.1:g.1039003A>C | GRCh37 |
| NC_000007.12:g.1005529A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397098.8:c.405+1103T>G MANE Select | ENSP00000380286.3:n.405+1103T>G | |
| ENST00000357429.10:c.405+1103T>G | ENSP00000350011.5:n.405+1103T>G | |
| ENST00000397098.7:c.405+1103T>G | ENSP00000380286.3:n.405+1103T>G | |
| ENST00000397100.6:c.405+1103T>G | ENSP00000380288.2:n.405+1103T>G | |
| ENST00000412051.5:c.358+1103T>G | ||
| ENST00000444428.5:c.309+1103T>G | ENSP00000396542.1:n.309+1103T>G | |
| ENST00000488073.1:n.542+1103T>G | ||
| ENST00000491163.1:c.405+1103T>G | ENSP00000420130.1:n.405+1103T>G | |
| NM_001134395.1:c.405+1103T>G | NP_001127867.1:n.405+1103T>G | |
| NM_001134396.1:c.405+1103T>G | NP_001127868.1:n.405+1103T>G | |
| NM_032350.5:c.405+1103T>G | NP_115726.1:n.405+1103T>G | |
| XM_005249886.2:c.948+1103T>G | XP_005249943.1:n.948+1103T>G | |
| XM_005249888.3:c.405+1103T>G | XP_005249945.1:n.405+1103T>G | |
| XM_005249889.3:c.363+1103T>G | XP_005249946.2:n.363+1103T>G | |
| XM_006715793.2:c.948+1103T>G | XP_006715856.1:n.948+1103T>G | |
| XM_011515580.1:c.948+1103T>G | XP_011513882.1:n.948+1103T>G | |
| XM_011515581.1:c.405+1103T>G | XP_011513883.1:n.405+1103T>G | |
| XM_011515582.1:c.405+1103T>G | XP_011513884.1:n.405+1103T>G | |
| XM_011515583.1:c.405+1103T>G | XP_011513885.1:n.405+1103T>G | |
| XM_011515584.1:c.405+1103T>G | XP_011513886.1:n.405+1103T>G | |
| NM_001318252.1:c.405+1103T>G | NP_001305181.1:n.405+1103T>G | |
| NM_001350968.1:c.405+1103T>G | NP_001337897.1:n.405+1103T>G | |
| NM_001350969.1:c.363+1103T>G | NP_001337898.1:n.363+1103T>G | |
| NR_134537.1:n.451+1103T>G | ||
| NR_146964.1:n.520+1103T>G | ||
| NR_146965.1:n.453+1101T>G | ||
| NR_146966.1:n.370-1563T>G | ||
| NR_146967.1:n.451+1103T>G | ||
| NR_156697.1:n.388+1103T>G | ||
| XM_011515581.3:c.405+1103T>G | XP_011513883.1:n.405+1103T>G | |
| XM_011515582.3:c.405+1103T>G | XP_011513884.1:n.405+1103T>G | |
| XM_011515583.2:c.405+1103T>G | XP_011513885.1:n.405+1103T>G | |
| XM_011515584.2:c.405+1103T>G | XP_011513886.1:n.405+1103T>G | |
| XM_017012719.1:c.948+1103T>G | XP_016868208.1:n.948+1103T>G | |
| XM_017012720.2:c.405+1103T>G | XP_016868209.1:n.405+1103T>G | |
| XM_017012721.2:c.363+1103T>G | XP_016868210.1:n.363+1103T>G | |
| XM_024446977.1:c.405+1103T>G | XP_024302745.1:n.405+1103T>G | |
| XM_024446978.1:c.363+1103T>G | XP_024302746.1:n.363+1103T>G | |
| NM_001318252.2:c.405+1103T>G MANE Select | NP_001305181.1:n.405+1103T>G | |
| NR_146967.2:n.388+1103T>G | ||
| NR_156697.2:n.388+1103T>G | ||
| NM_001350969.2:c.363+1103T>G | NP_001337898.1:n.363+1103T>G | |
| NR_134537.2:n.388+1103T>G | ||
| NR_146964.2:n.457+1103T>G | ||
| NR_146965.2:n.390+1101T>G | ||
| NR_146966.2:n.307-1563T>G |