gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179148620C>G , CM000665.2:g.179148620C>G | GRCh38 |
| NC_000003.11:g.178866408C>G , CM000665.1:g.178866408C>G | GRCh37 |
| NC_000003.10:g.180349102C>G | NCBI36 |
| NG_012113.2:g.5098C>G , LRG_310:g.5098C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.-77+17C>G MANE Select | ENSP00000263967.3:n.-77+17C>G | |
| ENST00000643187.1:c.-77+17C>G | ENSP00000493507.1:n.-77+17C>G | |
| ENST00000263967.3:c.-77+17C>G | ENSP00000263967.3:n.-77+17C>G | |
| ENST00000477735.1:c.-77+401C>G | ENSP00000418145.1:n.-77+401C>G | |
| NM_006218.2:c.-77+17C>G , LRG_310t1:c.-77+17C>G | NP_006209.2:n.-77+17C>G | |
| XM_006713658.2:c.-77+401C>G | XP_006713721.1:n.-77+401C>G | |
| NM_006218.3:c.-77+17C>G | NP_006209.2:n.-77+17C>G | |
| XM_006713658.4:c.-77+401C>G | XP_006713721.1:n.-77+401C>G | |
| NM_006218.4:c.-77+17C>G MANE Select | NP_006209.2:n.-77+17C>G |