Linked Data
dbSNP Id:
rs12482346
gnomAD v2:
21-46937627-C-T
gnomAD v3:
21-45517713-C-T
gnomAD v4:
21-45517713-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45517713C>T , CM000683.2:g.45517713C>T | GRCh38 |
| NC_000021.8:g.46937627C>T , CM000683.1:g.46937627C>T | GRCh37 |
| NC_000021.7:g.45762055C>T | NCBI36 |
| NG_028278.1:g.29759G>A | |
| NG_028278.2:g.50431G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311124.9:c.1294-1573G>A MANE Select | ENSP00000308895.4:n.1294-1573G>A | |
| ENST00000650808.1:c.1294-2561G>A | ENSP00000498221.1:n.1294-2561G>A | |
| ENST00000311124.8:c.1294-1573G>A | ENSP00000308895.4:n.1294-1573G>A | |
| ENST00000380010.8:c.1294-2561G>A | ENSP00000369347.4:n.1294-2561G>A | |
| ENST00000417954.5:c.497+8104G>A | ||
| ENST00000485649.3:c.1174-1573G>A | ENSP00000441772.1:n.1174-1573G>A | |
| ENST00000567670.5:c.1293+8104G>A | ENSP00000457278.1:n.1293+8104G>A | |
| NM_001205206.1:c.1294-2561G>A | NP_001192135.1:n.1294-2561G>A | |
| NM_001205207.1:c.1174-1573G>A | NP_001192136.1:n.1174-1573G>A | |
| NM_194255.2:c.1294-1573G>A | NP_919231.1:n.1294-1573G>A | |
| XM_005261164.2:c.940-1573G>A | XP_005261221.1:n.940-1573G>A | |
| XM_011529696.1:c.1585-1573G>A | XP_011527998.1:n.1585-1573G>A | |
| XM_011529697.1:c.1585-1573G>A | XP_011527999.1:n.1585-1573G>A | |
| XM_011529698.1:c.1360-1573G>A | XP_011528000.1:n.1360-1573G>A | |
| XM_011529699.1:c.1321-1573G>A | XP_011528001.1:n.1321-1573G>A | |
| XM_011529700.1:c.1294-1573G>A | XP_011528002.1:n.1294-1573G>A | |
| XM_011529701.1:c.1294-1573G>A | XP_011528003.1:n.1294-1573G>A | |
| XM_011529702.1:c.1294-1573G>A | XP_011528004.1:n.1294-1573G>A | |
| XM_011529703.1:c.1294-1573G>A | XP_011528005.1:n.1294-1573G>A | |
| XM_011529704.1:c.1294-1573G>A | XP_011528006.1:n.1294-1573G>A | |
| XM_011529705.1:c.1585-2561G>A | XP_011528007.1:n.1585-2561G>A | |
| XM_011529706.1:c.1156-1573G>A | XP_011528008.1:n.1156-1573G>A | |
| XM_011529707.1:c.1584+8104G>A | XP_011528009.1:n.1584+8104G>A | |
| XM_011529708.1:c.1294-1573G>A | XP_011528010.1:n.1294-1573G>A | |
| XM_011529709.1:c.940-1573G>A | XP_011528011.1:n.940-1573G>A | |
| XM_011529710.1:c.940-1573G>A | XP_011528012.1:n.940-1573G>A | |
| NM_001205206.2:c.1294-2561G>A | NP_001192135.1:n.1294-2561G>A | |
| NM_001205207.2:c.1174-1573G>A | NP_001192136.1:n.1174-1573G>A | |
| NM_001352510.1:c.940-1573G>A | NP_001339439.1:n.940-1573G>A | |
| NM_001352511.1:c.1294-2561G>A | NP_001339440.1:n.1294-2561G>A | |
| NM_001352512.1:c.1294-1573G>A | NP_001339441.1:n.1294-1573G>A | |
| NM_194255.3:c.1294-1573G>A | NP_919231.1:n.1294-1573G>A | |
| XM_011529696.2:c.1585-1573G>A | XP_011527998.1:n.1585-1573G>A | |
| XM_011529698.2:c.1360-1573G>A | XP_011528000.1:n.1360-1573G>A | |
| XM_011529700.2:c.1294-1573G>A | XP_011528002.1:n.1294-1573G>A | |
| XM_011529701.2:c.1294-1573G>A | XP_011528003.1:n.1294-1573G>A | |
| XM_011529702.2:c.1294-1573G>A | XP_011528004.1:n.1294-1573G>A | |
| XM_011529703.2:c.1294-1573G>A | XP_011528005.1:n.1294-1573G>A | |
| XM_011529706.3:c.1156-1573G>A | XP_011528008.1:n.1156-1573G>A | |
| XM_011529709.2:c.940-1573G>A | XP_011528011.1:n.940-1573G>A | |
| XM_017028443.1:c.1498-1573G>A | XP_016883932.1:n.1498-1573G>A | |
| XM_017028444.1:c.1585-2561G>A | XP_016883933.1:n.1585-2561G>A | |
| XM_017028445.2:c.1584+8104G>A | XP_016883934.1:n.1584+8104G>A | |
| NM_194255.4:c.1294-1573G>A MANE Select | NP_919231.1:n.1294-1573G>A | |
| NM_001205206.3:c.1294-2561G>A | NP_001192135.1:n.1294-2561G>A | |
| NM_001205207.3:c.1174-1573G>A | NP_001192136.1:n.1174-1573G>A | |
| NM_001352510.2:c.940-1573G>A | NP_001339439.1:n.940-1573G>A | |
| NM_001352511.2:c.1294-2561G>A | NP_001339440.1:n.1294-2561G>A | |
| NM_001352512.2:c.1294-1573G>A | NP_001339441.1:n.1294-1573G>A | |
| NM_001205206.4:c.1294-2561G>A | NP_001192135.1:n.1294-2561G>A | |
| NM_001352511.3:c.1294-2561G>A | NP_001339440.1:n.1294-2561G>A |