Linked Data
dbSNP Id:
rs17483466
gnomAD v2:
2-111797458-A-G
gnomAD v3:
2-111039881-A-G
gnomAD v4:
2-111039881-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111039881A>G , CM000664.2:g.111039881A>G | GRCh38 |
| NC_000002.11:g.111797458A>G , CM000664.1:g.111797458A>G | GRCh37 |
| NC_000002.10:g.111513929A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000676595.2:c.1459+8167A>G | ENSP00000503683.1:n.1459+8167A>G | |
| ENST00000439055.6:c.1369+8167A>G MANE Select | ENSP00000407761.1:n.1369+8167A>G | |
| ENST00000676595.1:c.1459+8167A>G | ENSP00000503683.1:n.1459+8167A>G | |
| ENST00000389811.8:c.1459+8167A>G | ENSP00000374461.4:n.1459+8167A>G | |
| ENST00000417074.5:c.883+8167A>G | ENSP00000387832.1:n.883+8167A>G | |
| ENST00000439055.5:c.1369+8167A>G | ENSP00000407761.1:n.1369+8167A>G | |
| ENST00000441974.1:c.220+8167A>G | ENSP00000393823.1:n.220+8167A>G | |
| ENST00000443586.5:c.313-9337A>G | ENSP00000409500.1:n.313-9337A>G | |
| NM_001142807.1:c.1369+8167A>G | NP_001136279.1:n.1369+8167A>G | |
| XM_011511404.1:c.1459+8167A>G | XP_011509706.1:n.1459+8167A>G | |
| XM_011511405.1:c.1459+8167A>G | XP_011509707.1:n.1459+8167A>G | |
| XM_011511406.1:c.1459+8167A>G | XP_011509708.1:n.1459+8167A>G | |
| XM_011511407.1:c.1447+8167A>G | XP_011509709.1:n.1447+8167A>G | |
| XM_011511408.1:c.1375+8167A>G | XP_011509710.1:n.1375+8167A>G | |
| XM_011511409.1:c.1459+8167A>G | XP_011509711.1:n.1459+8167A>G | |
| XM_011511410.1:c.1459+8167A>G | XP_011509712.1:n.1459+8167A>G | |
| XM_011511411.1:c.1342+8167A>G | XP_011509713.1:n.1342+8167A>G | |
| XM_011511412.1:c.1459+8167A>G | XP_011509714.1:n.1459+8167A>G | |
| XM_011511413.1:c.1459+8167A>G | XP_011509715.1:n.1459+8167A>G | |
| XM_011511414.1:c.1371+43877A>G | XP_011509716.1:n.1371+43877A>G | |
| XM_011511415.1:c.1459+8167A>G | XP_011509717.1:n.1459+8167A>G | |
| XM_011511416.1:c.1459+8167A>G | XP_011509718.1:n.1459+8167A>G | |
| XM_011511417.1:c.1459+8167A>G | XP_011509719.1:n.1459+8167A>G | |
| XM_011511419.1:c.1369+8167A>G | XP_011509721.1:n.1369+8167A>G | |
| XM_011511420.1:c.1459+8167A>G | XP_011509722.1:n.1459+8167A>G | |
| XM_011511421.1:c.1459+8167A>G | XP_011509723.1:n.1459+8167A>G | |
| XM_011511422.1:c.1459+8167A>G | XP_011509724.1:n.1459+8167A>G | |
| XM_011511423.1:c.1459+8167A>G | XP_011509725.1:n.1459+8167A>G | |
| XM_011511424.1:c.1459+8167A>G | XP_011509726.1:n.1459+8167A>G | |
| XM_011511432.1:c.1459+8167A>G | XP_011509734.1:n.1459+8167A>G | |
| XM_011511434.1:c.598+8167A>G | XP_011509736.1:n.598+8167A>G | |
| XR_922958.1:n.1717+8167A>G | ||
| XR_922959.1:n.1630-9337A>G | ||
| XR_923192.1:n.153-2959T>C | ||
| NM_001142807.2:c.1369+8167A>G | NP_001136279.1:n.1369+8167A>G | |
| XM_011511404.3:c.1459+8167A>G | XP_011509706.1:n.1459+8167A>G | |
| XM_011511405.3:c.1459+8167A>G | XP_011509707.1:n.1459+8167A>G | |
| XM_011511406.3:c.1459+8167A>G | XP_011509708.1:n.1459+8167A>G | |
| XM_011511407.3:c.1447+8167A>G | XP_011509709.1:n.1447+8167A>G | |
| XM_011511411.3:c.1342+8167A>G | XP_011509713.1:n.1342+8167A>G | |
| XM_011511414.3:c.1371+43877A>G | XP_011509716.1:n.1371+43877A>G | |
| XM_011511415.2:c.1459+8167A>G | XP_011509717.1:n.1459+8167A>G | |
| XM_011511416.2:c.1459+8167A>G | XP_011509718.1:n.1459+8167A>G | |
| XM_011511419.2:c.1369+8167A>G | XP_011509721.1:n.1369+8167A>G | |
| XM_011511420.2:c.1459+8167A>G | XP_011509722.1:n.1459+8167A>G | |
| XM_011511421.2:c.1459+8167A>G | XP_011509723.1:n.1459+8167A>G | |
| XM_011511427.2:c.*1869A>G | XP_011509729.1:n.*1869A>G | |
| XM_011511432.3:c.1459+8167A>G | XP_011509734.1:n.1459+8167A>G | |
| XM_011511434.3:c.598+8167A>G | XP_011509736.1:n.598+8167A>G | |
| XM_017004433.2:c.730+8167A>G | XP_016859922.1:n.730+8167A>G | |
| XM_017004434.2:c.598+8167A>G | XP_016859923.1:n.598+8167A>G | |
| XR_001738822.1:n.1630-9337A>G | ||
| XR_001738823.2:n.1517+8167A>G | ||
| NM_001142807.4:c.1369+8167A>G MANE Select | NP_001136279.1:n.1369+8167A>G | |
| NM_001371254.1:c.1459+8167A>G | NP_001358183.1:n.1459+8167A>G |