gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.16968743T>A , CM000673.2:g.16968743T>A | GRCh38 |
| NC_000011.9:g.16990290T>A , CM000673.1:g.16990290T>A | GRCh37 |
| NC_000011.8:g.16946866T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698836.1:c.221+45246A>T | ENSP00000513972.1:n.221+45246A>T | |
| ENST00000531066.6:c.221+45246A>T MANE Select | ENSP00000435389.1:n.221+45246A>T | |
| ENST00000355661.7:c.221+45246A>T | ENSP00000347883.2:n.221+45246A>T | |
| ENST00000529213.1:n.265+44335A>T | ||
| ENST00000531066.5:c.221+45246A>T | ENSP00000435389.1:n.221+45246A>T | |
| ENST00000532079.1:c.81+45400A>T | ENSP00000434812.1:n.81+45400A>T | |
| NM_175058.4:c.221+45246A>T | NP_778228.3:n.221+45246A>T | |
| XM_006718149.2:c.221+45246A>T | XP_006718212.1:n.221+45246A>T | |
| XM_011519912.1:c.17+43553A>T | XP_011518214.1:n.17+43553A>T | |
| XM_011519913.1:c.167+44499A>T | XP_011518215.1:n.167+44499A>T | |
| XM_011519914.1:c.221+45246A>T | XP_011518216.1:n.221+45246A>T | |
| XM_011519916.1:c.167+44499A>T | XP_011518218.1:n.167+44499A>T | |
| NM_001329630.1:c.221+45246A>T | NP_001316559.1:n.221+45246A>T | |
| NM_001329631.1:c.221+45246A>T | NP_001316560.1:n.221+45246A>T | |
| XM_017017241.2:c.221+45246A>T | XP_016872730.1:n.221+45246A>T | |
| XM_017017242.2:c.221+45246A>T | XP_016872731.1:n.221+45246A>T | |
| XM_024448356.1:c.221+45246A>T | XP_024304124.1:n.221+45246A>T | |
| XM_024448357.1:c.221+45246A>T | XP_024304125.1:n.221+45246A>T | |
| XM_024448358.1:c.221+45246A>T | XP_024304126.1:n.221+45246A>T | |
| XM_024448359.1:c.221+45246A>T | XP_024304127.1:n.221+45246A>T | |
| XM_024448360.1:c.221+45246A>T | XP_024304128.1:n.221+45246A>T | |
| XM_024448363.1:c.221+45246A>T | XP_024304131.1:n.221+45246A>T | |
| XM_024448364.1:c.221+45246A>T | XP_024304132.1:n.221+45246A>T | |
| XM_024448370.1:c.221+45246A>T | XP_024304138.1:n.221+45246A>T | |
| XR_002957126.1:n.243+45246A>T | ||
| NM_001329630.2:c.221+45246A>T MANE Select | NP_001316559.1:n.221+45246A>T | |
| NM_001329631.2:c.221+45246A>T | NP_001316560.1:n.221+45246A>T | |
| NM_175058.5:c.221+45246A>T | NP_778228.3:n.221+45246A>T |