gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00247065 (MID)
Exomes Max Group AF
0.0025968 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101770394A>C , CM000674.2:g.101770394A>C | GRCh38 |
| NC_000012.11:g.102164172A>C , CM000674.1:g.102164172A>C | GRCh37 |
| NC_000012.10:g.100688303A>C | NCBI36 |
| NG_021243.1:g.65474T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.1113+12T>G MANE Select | ENSP00000299314.7:n.1113+12T>G | |
| ENST00000299314.11:c.1113+12T>G | ENSP00000299314.7:n.1113+12T>G | |
| ENST00000549940.5:c.1113+12T>G | ENSP00000449150.1:n.1113+12T>G | |
| NM_024312.4:c.1113+12T>G | NP_077288.2:n.1113+12T>G | |
| XM_006719593.2:c.1113+12T>G | XP_006719656.1:n.1113+12T>G | |
| XM_011538731.1:c.1032+12T>G | XP_011537033.1:n.1032+12T>G | |
| XM_006719593.3:c.1113+12T>G | XP_006719656.1:n.1113+12T>G | |
| XM_011538731.2:c.1032+12T>G | XP_011537033.1:n.1032+12T>G | |
| XM_017019961.1:c.897+12T>G | XP_016875450.1:n.897+12T>G | |
| XM_017019962.2:c.-115+12T>G | XP_016875451.1:n.-115+12T>G | |
| NM_024312.5:c.1113+12T>G MANE Select | NP_077288.2:n.1113+12T>G |