Linked Data
ClinVar Variation Id:
331660
ClinVar RCV Id:
RCV000405563
dbSNP Id:
rs372468197
ExAC:
2:157184350 G / A
gnomAD v2:
2-157184350-G-A
gnomAD v3:
2-156327838-G-A
gnomAD v4:
2-156327838-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.156327838G>A , CM000664.2:g.156327838G>A | GRCh38 |
| NC_000002.11:g.157184350G>A , CM000664.1:g.157184350G>A | GRCh37 |
| NC_000002.10:g.156892596G>A | NCBI36 |
| NG_011821.1:g.9938C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700228.1:c.954+88C>T | ENSP00000514865.1:n.954+88C>T | |
| ENST00000700229.1:c.176+13C>T | ||
| ENST00000700230.1:c.698+13C>T | ENSP00000514867.1:n.698+13C>T | |
| ENST00000700231.1:c.1083+88C>T | ENSP00000514868.1:n.1083+88C>T | |
| ENST00000339562.9:c.1158+13C>T MANE Select | ENSP00000344479.4:n.1158+13C>T | |
| ENST00000675870.1:c.969+13C>T | ENSP00000502739.1:n.969+13C>T | |
| ENST00000339562.8:c.1158+13C>T | ENSP00000344479.4:n.1158+13C>T | |
| ENST00000409108.6:c.1158+13C>T | ENSP00000386993.2:n.1158+13C>T | |
| ENST00000409572.5:c.1158+13C>T | ENSP00000386747.1:n.1158+13C>T | |
| ENST00000417764.5:c.969+13C>T | ENSP00000415632.1:n.969+13C>T | |
| ENST00000417972.5:c.969+13C>T | ENSP00000394671.1:n.969+13C>T | |
| ENST00000426264.5:c.969+13C>T | ENSP00000389986.1:n.969+13C>T | |
| ENST00000429376.5:c.969+13C>T | ENSP00000410952.1:n.969+13C>T | |
| NM_006186.3:c.1158+13C>T | NP_006177.1:n.1158+13C>T | |
| XM_005246621.2:c.1191+13C>T | XP_005246678.1:n.1191+13C>T | |
| XM_005246622.2:c.969+13C>T | XP_005246679.1:n.969+13C>T | |
| XM_005246623.1:c.969+13C>T | XP_005246680.1:n.969+13C>T | |
| XM_006712553.2:c.1116+88C>T | XP_006712616.1:n.1116+88C>T | |
| XM_011511246.1:c.1191+13C>T | XP_011509548.1:n.1191+13C>T | |
| XR_427087.2:n.3364+13C>T | ||
| NM_173173.2:c.969+13C>T | NP_775265.1:n.969+13C>T | |
| XM_005246621.4:c.1191+13C>T | XP_005246678.1:n.1191+13C>T | |
| XM_006712553.4:c.1116+88C>T | XP_006712616.1:n.1116+88C>T | |
| XM_011511246.2:c.1191+13C>T | XP_011509548.1:n.1191+13C>T | |
| XM_017004219.2:c.1158+13C>T | XP_016859708.1:n.1158+13C>T | |
| XM_017004220.2:c.1083+88C>T | XP_016859709.1:n.1083+88C>T | |
| XR_001738751.2:n.1526+13C>T | ||
| XR_001738752.2:n.1348+13C>T | ||
| XR_427087.4:n.1405+13C>T | ||
| NM_006186.4:c.1158+13C>T MANE Select | NP_006177.1:n.1158+13C>T | |
| NM_173173.3:c.969+13C>T | NP_775265.1:n.969+13C>T |