gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00015393 (EAS)
Exomes Max Group AF
0.00017342 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186208863A>G , CM000666.2:g.186208863A>G | GRCh38 |
| NC_000004.11:g.187130017A>G , CM000666.1:g.187130017A>G | GRCh37 |
| NC_000004.10:g.187367011A>G | NCBI36 |
| NG_007965.1:g.22344A>G | |
| NG_012095.2:g.4885A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.1091-2A>G MANE Select | ENSP00000368079.4:n.1091-2A>G | |
| ENST00000378802.4:c.1091-2A>G | ENSP00000368079.4:n.1091-2A>G | |
| ENST00000502665.1:n.326-2A>G | ||
| ENST00000507209.5:n.5789-2A>G | ||
| ENST00000513354.5:n.181-2A>G | ||
| NM_207352.3:c.1091-2A>G | NP_997235.3:n.1091-2A>G | |
| XM_005262935.2:c.1091-2A>G | XP_005262992.1:n.1091-2A>G | |
| XM_006714184.2:c.695-2A>G | XP_006714247.1:n.695-2A>G | |
| XM_005262935.4:c.1091-2A>G | XP_005262992.1:n.1091-2A>G | |
| XM_017008037.1:c.695-2A>G | XP_016863526.1:n.695-2A>G | |
| NM_207352.4:c.1091-2A>G MANE Select | NP_997235.3:n.1091-2A>G |