Linked Data
dbSNP Id:
rs17780304
gnomAD v2:
17-30535856-G-A
gnomAD v3:
17-32208837-G-A
gnomAD v4:
17-32208837-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.32208837G>A , CM000679.2:g.32208837G>A | GRCh38 |
| NC_000017.10:g.30535856G>A , CM000679.1:g.30535856G>A | GRCh37 |
| NC_000017.9:g.27559969G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545287.7:c.1739+528G>A MANE Select | ENSP00000439737.2:n.1739+528G>A | |
| ENST00000652713.1:c.163-513G>A | ||
| ENST00000333942.10:c.1739+528G>A | ENSP00000334724.6:n.1739+528G>A | |
| ENST00000354266.7:c.1676+528G>A | ENSP00000346215.3:n.1676+528G>A | |
| ENST00000358365.7:c.1740-513G>A | ENSP00000351132.3:n.1740-513G>A | |
| ENST00000394692.6:c.1740-513G>A | ENSP00000378184.2:n.1740-513G>A | |
| ENST00000545287.6:c.1739+528G>A | ENSP00000439737.2:n.1739+528G>A | |
| ENST00000578205.5:c.*1707+528G>A | ENSP00000462612.1:n.*1707+528G>A | |
| ENST00000580392.5:c.360+528G>A | ||
| ENST00000581031.5:c.1739+528G>A | ENSP00000464094.1:n.1739+528G>A | |
| ENST00000581094.5:c.*524G>A | ENSP00000462669.1:n.*524G>A | |
| ENST00000581148.1:c.308+528G>A | ENSP00000467272.1:n.308+528G>A | |
| ENST00000582602.5:c.490+528G>A | ||
| ENST00000583994.5:c.*1708-513G>A | ENSP00000462698.2:n.*1708-513G>A | |
| ENST00000584692.1:c.335+528G>A | ENSP00000464674.1:n.335+528G>A | |
| ENST00000584852.1:c.8+528G>A | ENSP00000461992.1:n.8+528G>A | |
| NM_001033566.2:c.1739+528G>A | NP_001028738.1:n.1739+528G>A | |
| NM_001033567.2:c.1358+528G>A | NP_001028739.2:n.1358+528G>A | |
| NM_001033568.2:c.1740-513G>A | NP_001028740.1:n.1740-513G>A | |
| NM_001288754.1:c.1740-513G>A | NP_001275683.1:n.1740-513G>A | |
| NM_001288755.1:c.1676+528G>A | NP_001275684.1:n.1676+528G>A | |
| NM_001288758.1:c.1359-513G>A | NP_001275687.1:n.1359-513G>A | |
| NM_018307.4:c.1739+528G>A | NP_060777.3:n.1739+528G>A | |
| NR_110083.1:n.1978+528G>A | ||
| XM_011524969.1:c.1677-513G>A | XP_011523271.1:n.1677-513G>A | |
| XM_011524970.1:c.1677-513G>A | XP_011523272.1:n.1677-513G>A | |
| XM_011524971.1:c.1677-513G>A | XP_011523273.1:n.1677-513G>A | |
| XM_011524972.1:c.1677-513G>A | XP_011523274.1:n.1677-513G>A | |
| XM_011524973.1:c.1677-513G>A | XP_011523275.1:n.1677-513G>A | |
| XM_011524974.1:c.1677-513G>A | XP_011523276.1:n.1677-513G>A | |
| XM_011524975.1:c.1677-513G>A | XP_011523277.1:n.1677-513G>A | |
| XM_011524976.1:c.1676+528G>A | XP_011523278.1:n.1676+528G>A | |
| XR_934499.1:n.1754+528G>A | ||
| XM_011524969.2:c.1677-513G>A | XP_011523271.1:n.1677-513G>A | |
| XM_011524971.2:c.1740-513G>A | XP_011523273.2:n.1740-513G>A | |
| XM_011524973.2:c.1740-513G>A | XP_011523275.2:n.1740-513G>A | |
| XM_011524975.3:c.1677-513G>A | XP_011523277.1:n.1677-513G>A | |
| XM_011524976.2:c.1739+528G>A | XP_011523278.2:n.1739+528G>A | |
| XM_017024819.1:c.1736+528G>A | XP_016880308.1:n.1736+528G>A | |
| XM_017024820.1:c.1676+528G>A | XP_016880309.1:n.1676+528G>A | |
| XM_017024821.1:c.1739+528G>A | XP_016880310.1:n.1739+528G>A | |
| XM_017024822.1:c.1676+528G>A | XP_016880311.1:n.1676+528G>A | |
| XM_017024823.1:c.1739+528G>A | XP_016880312.1:n.1739+528G>A | |
| XM_017024824.1:c.1677-513G>A | XP_016880313.1:n.1677-513G>A | |
| XM_017024825.1:c.1676+528G>A | XP_016880314.1:n.1676+528G>A | |
| XM_024450827.1:c.1677-513G>A | XP_024306595.1:n.1677-513G>A | |
| XR_001752554.1:n.1703-513G>A | ||
| XR_001752555.1:n.1774+528G>A | ||
| XR_001752556.1:n.1826+528G>A | ||
| XR_934499.2:n.1826+528G>A | ||
| NM_001033566.3:c.1739+528G>A MANE Select | NP_001028738.1:n.1739+528G>A | |
| NM_001033567.3:c.1358+528G>A | NP_001028739.2:n.1358+528G>A | |
| NM_001033568.3:c.1740-513G>A | NP_001028740.1:n.1740-513G>A | |
| NM_001288754.2:c.1740-513G>A | NP_001275683.1:n.1740-513G>A | |
| NM_001288755.2:c.1676+528G>A | NP_001275684.1:n.1676+528G>A | |
| NM_001288758.2:c.1359-513G>A | NP_001275687.1:n.1359-513G>A | |
| NM_018307.5:c.1739+528G>A | NP_060777.3:n.1739+528G>A | |
| NR_110083.2:n.1930+528G>A |