gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40480906 (AMR)
Genomes Max Group AF
0.40480906 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.29215854A>G , CM000669.2:g.29215854A>G | GRCh38 |
| NC_000007.13:g.29255470A>G , CM000669.1:g.29255470A>G | GRCh37 |
| NC_000007.12:g.29221995A>G | NCBI36 |
| NG_029365.2:g.74308A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409350.6:c.49+20864A>G | ENSP00000386968.2:n.49+20864A>G | |
| ENST00000439384.6:n.311+68894A>G | ||
| ENST00000446446.6:c.49+20864A>G | ENSP00000396867.2:n.49+20864A>G | |
| ENST00000706158.1:c.49+20864A>G | ENSP00000516236.1:n.49+20864A>G | |
| ENST00000706159.1:c.49+20864A>G | ENSP00000516237.1:n.49+20864A>G | |
| ENST00000706160.1:c.49+20864A>G | ENSP00000516238.1:n.49+20864A>G | |
| ENST00000706161.1:c.49+20864A>G | ENSP00000516239.1:n.49+20864A>G | |
| ENST00000706162.1:c.49+20864A>G | ENSP00000516240.1:n.49+20864A>G | |
| ENST00000706163.1:c.49+20864A>G | ENSP00000516241.1:n.49+20864A>G | |
| ENST00000222792.11:c.49+20864A>G MANE Select | ENSP00000222792.7:n.49+20864A>G | |
| ENST00000644824.1:c.274+68894A>G | ENSP00000495614.1:n.274+68894A>G | |
| ENST00000222792.10:c.49+20864A>G | ENSP00000222792.6:n.49+20864A>G | |
| ENST00000409350.5:c.49+20864A>G | ENSP00000386968.1:n.49+20864A>G | |
| ENST00000409964.6:n.59+17871A>G | ||
| ENST00000435288.6:c.49+20864A>G | ENSP00000400282.3:n.49+20864A>G | |
| ENST00000439384.5:c.274+68894A>G | ENSP00000409843.1:n.274+68894A>G | |
| ENST00000474070.5:c.149+69109A>G | ||
| ENST00000495789.6:c.49+20864A>G | ENSP00000438587.2:n.49+20864A>G | |
| ENST00000539389.5:c.49+20864A>G | ENSP00000440526.2:n.49+20864A>G | |
| ENST00000539406.5:c.49+20864A>G | ENSP00000444063.2:n.49+20864A>G | |
| NM_001293069.1:c.274+68894A>G | NP_001279998.1:n.274+68894A>G | |
| NM_001293070.1:c.49+20864A>G | NP_001279999.1:n.49+20864A>G | |
| NM_001293071.1:c.-1+20864A>G | NP_001280000.1:n.-1+20864A>G | |
| NM_001293072.1:c.4+17871A>G | NP_001280001.1:n.4+17871A>G | |
| NM_004067.3:c.49+20864A>G | NP_004058.1:n.49+20864A>G | |
| XM_011515105.1:c.274+68894A>G | XP_011513407.1:n.274+68894A>G | |
| XM_011515106.1:c.274+68894A>G | XP_011513408.1:n.274+68894A>G | |
| XM_011515107.1:c.49+20864A>G | XP_011513409.1:n.49+20864A>G | |
| XM_011515108.1:c.27+68894A>G | XP_011513410.1:n.27+68894A>G | |
| XM_011515109.1:c.27+68894A>G | XP_011513411.1:n.27+68894A>G | |
| XM_011515110.1:c.27+68894A>G | XP_011513412.1:n.27+68894A>G | |
| XM_011515112.1:c.274+68894A>G | XP_011513414.1:n.274+68894A>G | |
| XM_011515105.2:c.274+68894A>G | XP_011513407.1:n.274+68894A>G | |
| XM_011515106.2:c.274+68894A>G | XP_011513408.1:n.274+68894A>G | |
| XM_011515107.2:c.49+20864A>G | XP_011513409.1:n.49+20864A>G | |
| XM_017011721.1:c.274+68894A>G | XP_016867210.1:n.274+68894A>G | |
| XM_017011722.1:c.49+20864A>G | XP_016867211.1:n.49+20864A>G | |
| NM_004067.4:c.49+20864A>G MANE Select | NP_004058.1:n.49+20864A>G | |
| NM_001293070.2:c.49+20864A>G | NP_001279999.1:n.49+20864A>G | |
| NM_001293071.2:c.-1+20864A>G | NP_001280000.1:n.-1+20864A>G | |
| NM_001293072.2:c.4+17871A>G | NP_001280001.1:n.4+17871A>G | |
| NM_001398427.1:c.-390+68894A>G | NP_001385356.1:n.-390+68894A>G |