Linked Data
ClinVar Variation Id:
45353
ClinVar RCV Id:
RCV000038536
RCV000312601
RCV001094646
RCV000852768
RCV001030076
RCV001701578
RCV002504897
dbSNP Id:
rs183998234
ExAC:
2:39234158 A / G
gnomAD v2:
2-39234158-A-G
gnomAD v3:
2-39007017-A-G
gnomAD v4:
2-39007017-A-G
ERepo:
CA136107/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39007017A>G , CM000664.2:g.39007017A>G | GRCh38 |
| NC_000002.11:g.39234158A>G , CM000664.1:g.39234158A>G | GRCh37 |
| NC_000002.10:g.39087662A>G | NCBI36 |
| NG_007530.1:g.118447T>C , LRG_754:g.118447T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.1440+14T>C | ENSP00000509424.1:n.1440+14T>C | |
| ENST00000689668.1:n.2680+14T>C | ||
| ENST00000690876.1:c.2562+14T>C | ENSP00000508955.1:n.2562+14T>C | |
| ENST00000691229.1:c.2442+14T>C | ENSP00000510437.1:n.2442+14T>C | |
| ENST00000692089.1:c.2562+14T>C | ENSP00000508626.1:n.2562+14T>C | |
| ENST00000692227.1:c.369+14T>C | ENSP00000509138.1:n.369+14T>C | |
| ENST00000692620.1:c.*260+14T>C | ENSP00000509311.1:n.*260+14T>C | |
| ENST00000402219.8:c.2673+14T>C MANE Select | ENSP00000384675.2:n.2673+14T>C | |
| ENST00000395038.6:c.2673+14T>C | ENSP00000378479.2:n.2673+14T>C | |
| ENST00000402219.6:c.2673+14T>C | ENSP00000384675.2:n.2673+14T>C | |
| ENST00000426016.5:c.2673+14T>C | ENSP00000387784.1:n.2673+14T>C | |
| ENST00000474390.1:n.469+14T>C | ||
| NM_005633.3:c.2673+14T>C , LRG_754t1:c.2673+14T>C | NP_005624.2:n.2673+14T>C | |
| XM_005264515.3:c.2673+14T>C | XP_005264572.1:n.2673+14T>C | |
| XM_011533060.1:c.2766+14T>C | XP_011531362.1:n.2766+14T>C | |
| XM_011533061.1:c.2766+14T>C | XP_011531363.1:n.2766+14T>C | |
| XM_011533062.1:c.2652+14T>C | XP_011531364.1:n.2652+14T>C | |
| XM_011533063.1:c.2649+14T>C | XP_011531365.1:n.2649+14T>C | |
| XM_011533064.1:c.2502+14T>C | XP_011531366.1:n.2502+14T>C | |
| XM_011533065.1:c.2766+14T>C | XP_011531367.1:n.2766+14T>C | |
| XM_011533066.1:c.1608+14T>C | XP_011531368.1:n.1608+14T>C | |
| XM_005264515.4:c.2673+14T>C | XP_005264572.1:n.2673+14T>C | |
| XM_011533062.2:c.2652+14T>C | XP_011531364.1:n.2652+14T>C | |
| XM_011533064.2:c.2502+14T>C | XP_011531366.1:n.2502+14T>C | |
| NM_001382394.1:c.2652+14T>C | NP_001369323.1:n.2652+14T>C | |
| NM_001382395.1:c.2673+14T>C | NP_001369324.1:n.2673+14T>C | |
| NM_005633.4:c.2673+14T>C MANE Select | NP_005624.2:n.2673+14T>C |