gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000689 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000576 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165765058T>C , CM000664.2:g.165765058T>C | GRCh38 |
| NC_000002.11:g.166621568T>C , CM000664.1:g.166621568T>C | GRCh37 |
| NC_000002.10:g.166329814T>C | NCBI36 |
| NG_012069.1:g.34236A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392701.8:c.516-2A>G MANE Select | ENSP00000376465.3:n.516-2A>G | |
| ENST00000392701.7:c.516-2A>G | ENSP00000376465.3:n.516-2A>G | |
| ENST00000412248.5:c.516-2A>G | ENSP00000412643.1:n.516-2A>G | |
| NM_004482.3:c.516-2A>G | NP_004473.2:n.516-2A>G | |
| XM_005246449.1:c.516-2A>G | XP_005246506.1:n.516-2A>G | |
| XM_006712402.2:c.516-2A>G | XP_006712465.1:n.516-2A>G | |
| XM_011510929.1:c.516-2A>G | XP_011509231.1:n.516-2A>G | |
| XM_017003770.1:c.516-2A>G | XP_016859259.1:n.516-2A>G | |
| XR_002959253.1:n.857-2A>G | ||
| NM_004482.4:c.516-2A>G MANE Select | NP_004473.2:n.516-2A>G |