Linked Data
dbSNP Id:
rs12617721
gnomAD v2:
2-99083892-A-C
gnomAD v3:
2-98467429-A-C
gnomAD v4:
2-98467429-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.98467429A>C , CM000664.2:g.98467429A>C | GRCh38 |
| NC_000002.11:g.99083892A>C , CM000664.1:g.99083892A>C | GRCh37 |
| NC_000002.10:g.98450324A>C | NCBI36 |
| NG_029890.1:g.27572A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706935.1:c.-166+22344A>C | ENSP00000516656.1:n.-166+22344A>C | |
| ENST00000409851.8:c.-166+22344A>C MANE Select | ENSP00000386777.4:n.-166+22344A>C | |
| ENST00000074304.9:c.-166+22344A>C | ENSP00000074304.5:n.-166+22344A>C | |
| ENST00000409016.8:c.-166+22344A>C | ENSP00000386704.3:n.-166+22344A>C | |
| ENST00000409463.5:c.-166+22344A>C | ENSP00000386329.1:n.-166+22344A>C | |
| ENST00000409540.7:c.-166+22344A>C | ENSP00000387294.3:n.-166+22344A>C | |
| ENST00000409851.7:c.-166+22344A>C | ENSP00000386777.3:n.-166+22344A>C | |
| NM_001134224.1:c.-166+22344A>C | NP_001127696.1:n.-166+22344A>C | |
| NM_001134225.1:c.-166+22344A>C | NP_001127697.1:n.-166+22344A>C | |
| NM_001566.2:c.-166+22344A>C | NP_001557.1:n.-166+22344A>C | |
| NM_004027.2:c.-166+22344A>C | NP_004018.1:n.-166+22344A>C | |
| XM_006712499.2:c.-166+22344A>C | XP_006712562.1:n.-166+22344A>C | |
| XM_006712500.2:c.-166+22344A>C | XP_006712563.1:n.-166+22344A>C | |
| XM_006712501.2:c.-166+22344A>C | XP_006712564.1:n.-166+22344A>C | |
| XM_006712502.2:c.-166+22344A>C | XP_006712565.1:n.-166+22344A>C | |
| XM_006712503.2:c.-166+22344A>C | XP_006712566.1:n.-166+22344A>C | |
| XM_006712504.2:c.-166+22344A>C | XP_006712567.1:n.-166+22344A>C | |
| XM_006712505.2:c.-166+22344A>C | XP_006712568.1:n.-166+22344A>C | |
| XM_006712506.2:c.-166+22344A>C | XP_006712569.1:n.-166+22344A>C | |
| XM_006712507.2:c.-166+22344A>C | XP_006712570.1:n.-166+22344A>C | |
| XM_006712508.2:c.-166+22344A>C | XP_006712571.1:n.-166+22344A>C | |
| XM_011511122.1:c.-166+22344A>C | XP_011509424.1:n.-166+22344A>C | |
| XM_011511123.1:c.-166+22344A>C | XP_011509425.1:n.-166+22344A>C | |
| XM_011511124.1:c.-166+22344A>C | XP_011509426.1:n.-166+22344A>C | |
| XR_922915.1:n.228+22344A>C | ||
| XR_922916.1:n.228+22344A>C | ||
| NM_001351424.1:c.-166+22774A>C | NP_001338353.1:n.-166+22774A>C | |
| NM_001351425.1:c.-166+22344A>C | NP_001338354.1:n.-166+22344A>C | |
| NM_001351426.1:c.-166+21279A>C | NP_001338355.1:n.-166+21279A>C | |
| NM_001351427.1:c.-166+21279A>C | NP_001338356.1:n.-166+21279A>C | |
| NM_001351428.1:c.-166+21279A>C | NP_001338357.1:n.-166+21279A>C | |
| NM_001351429.1:c.-166+21279A>C | NP_001338358.1:n.-166+21279A>C | |
| XM_006712499.3:c.-166+22344A>C | XP_006712562.1:n.-166+22344A>C | |
| XM_006712500.3:c.-166+22344A>C | XP_006712563.1:n.-166+22344A>C | |
| XM_006712501.3:c.-166+22344A>C | XP_006712564.1:n.-166+22344A>C | |
| XM_006712502.3:c.-166+22344A>C | XP_006712565.1:n.-166+22344A>C | |
| XM_006712503.3:c.-166+22344A>C | XP_006712566.1:n.-166+22344A>C | |
| XM_006712504.3:c.-166+22344A>C | XP_006712567.1:n.-166+22344A>C | |
| XM_006712505.3:c.-166+22344A>C | XP_006712568.1:n.-166+22344A>C | |
| XM_006712506.3:c.-166+22344A>C | XP_006712569.1:n.-166+22344A>C | |
| XM_006712508.3:c.-166+22344A>C | XP_006712571.1:n.-166+22344A>C | |
| XM_011511122.2:c.-166+22344A>C | XP_011509424.1:n.-166+22344A>C | |
| XM_011511123.2:c.-166+22344A>C | XP_011509425.1:n.-166+22344A>C | |
| XM_011511124.2:c.-166+22344A>C | XP_011509426.1:n.-166+22344A>C | |
| XM_017003994.1:c.-166+22344A>C | XP_016859483.1:n.-166+22344A>C | |
| XM_017003995.1:c.-166+22344A>C | XP_016859484.1:n.-166+22344A>C | |
| XM_017003996.1:c.-166+22344A>C | XP_016859485.1:n.-166+22344A>C | |
| XM_017004000.1:c.-166+22344A>C | XP_016859489.1:n.-166+22344A>C | |
| XM_017004001.1:c.-166+22344A>C | XP_016859490.1:n.-166+22344A>C | |
| XM_017004003.1:c.-166+22344A>C | XP_016859492.1:n.-166+22344A>C | |
| XM_024452876.1:c.-166+22774A>C | XP_024308644.1:n.-166+22774A>C | |
| XR_001738737.1:n.223+22344A>C | ||
| XR_001738738.1:n.223+22344A>C | ||
| XR_922915.2:n.223+22344A>C | ||
| XR_922916.2:n.223+22344A>C | ||
| NM_001134225.2:c.-166+22344A>C MANE Select | NP_001127697.1:n.-166+22344A>C | |
| NM_001351425.2:c.-166+22344A>C | NP_001338354.1:n.-166+22344A>C | |
| NM_004027.3:c.-166+22344A>C | NP_004018.1:n.-166+22344A>C | |
| NM_001134224.2:c.-166+22344A>C | NP_001127696.1:n.-166+22344A>C | |
| NM_001351426.2:c.-166+21279A>C | NP_001338355.1:n.-166+21279A>C | |
| NM_001351427.2:c.-166+21279A>C | NP_001338356.1:n.-166+21279A>C | |
| NM_001351428.2:c.-166+21279A>C | NP_001338357.1:n.-166+21279A>C | |
| NM_001351429.2:c.-166+21279A>C | NP_001338358.1:n.-166+21279A>C |