Linked Data
dbSNP Id:
rs1167259725
gnomAD v2:
3-38182552-G-A
gnomAD v3:
3-38141061-G-A
gnomAD v4:
3-38141061-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38141061G>A , CM000665.2:g.38141061G>A | GRCh38 |
| NC_000003.11:g.38182552G>A , CM000665.1:g.38182552G>A | GRCh37 |
| NC_000003.10:g.38157556G>A | NCBI36 |
| NG_016964.1:g.7584G>A , LRG_157:g.7584G>A | |
| NG_023225.1:g.1182C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463956.2:n.524-71G>A | ||
| ENST00000484513.2:n.2215-71G>A | ||
| ENST00000699084.1:n.1826-71G>A | ||
| ENST00000699085.1:n.1602-71G>A | ||
| ENST00000699086.1:c.518-71G>A | ||
| ENST00000396334.8:c.737-71G>A | ENSP00000379625.4:n.737-71G>A | |
| ENST00000416282.3:n.840-71G>A | ||
| ENST00000417037.8:c.602-71G>A | ENSP00000401399.4:n.602-71G>A | |
| ENST00000421516.3:c.761-71G>A | ENSP00000391753.3:n.761-71G>A | |
| ENST00000650112.2:c.421-71G>A | ENSP00000497991.2:n.421-71G>A | |
| ENST00000650905.2:c.737-71G>A MANE Select | ENSP00000498360.2:n.737-71G>A | |
| ENST00000651800.2:c.556-71G>A | ENSP00000499012.2:n.556-71G>A | |
| ENST00000652213.1:c.718-71G>A | ENSP00000498576.1:n.718-71G>A | |
| ENST00000652590.1:n.965-71G>A | ||
| ENST00000396334.7:c.776-71G>A | ENSP00000379625.3:n.776-71G>A | |
| ENST00000416282.2:n.840-71G>A | ||
| ENST00000417037.6:c.800-71G>A | ENSP00000401399.2:n.800-71G>A | |
| ENST00000421516.1:c.797-71G>A | ENSP00000391753.1:n.797-71G>A | |
| ENST00000424893.5:c.641-71G>A | ENSP00000389979.1:n.641-71G>A | |
| ENST00000443433.6:c.595-71G>A | ENSP00000390565.2:n.595-71G>A | |
| ENST00000463956.1:n.450-71G>A | ||
| ENST00000481122.5:n.530-71G>A | ||
| ENST00000484513.1:n.1427-71G>A | ||
| ENST00000495303.5:c.460-71G>A | ENSP00000417848.1:n.460-71G>A | |
| NM_001172566.1:c.460-71G>A | NP_001166037.1:n.460-71G>A | |
| NM_001172567.1:c.800-71G>A , LRG_157t1:c.800-71G>A | NP_001166038.1:n.800-71G>A | |
| NM_001172568.1:c.641-71G>A | NP_001166039.1:n.641-71G>A | |
| NM_001172569.1:c.595-71G>A | NP_001166040.1:n.595-71G>A | |
| NM_002468.4:c.776-71G>A | NP_002459.2:n.776-71G>A | |
| XM_005265172.1:c.757-71G>A | XP_005265229.1:n.757-71G>A | |
| XM_006713170.1:c.622-71G>A | XP_006713233.1:n.622-71G>A | |
| NM_001172566.2:c.421-71G>A | NP_001166037.2:n.421-71G>A | |
| NM_001172567.2:c.761-71G>A | NP_001166038.2:n.761-71G>A | |
| NM_001172568.2:c.602-71G>A | NP_001166039.2:n.602-71G>A | |
| NM_001172569.2:c.556-71G>A | NP_001166040.2:n.556-71G>A | |
| NM_001365876.1:c.718-71G>A | NP_001352805.1:n.718-71G>A | |
| NM_001365877.1:c.583-71G>A | NP_001352806.1:n.583-71G>A | |
| NM_002468.5:c.737-71G>A MANE Select | NP_002459.3:n.737-71G>A | |
| NM_001172569.3:c.556-71G>A | NP_001166040.2:n.556-71G>A | |
| NM_001374787.1:c.694-71G>A | NP_001361716.1:n.694-71G>A | |
| NM_001374788.1:c.269-71G>A | NP_001361717.1:n.269-71G>A | |
| NR_164663.1:n.420-71G>A |