gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000878 (NFE)
Exomes Max Group AF
0.00000931 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74718795A>G , CM000667.2:g.74718795A>G | GRCh38 |
| NC_000005.9:g.74014620A>G , CM000667.1:g.74014620A>G | GRCh37 |
| NC_000005.8:g.74050376A>G | NCBI36 |
| NG_009770.1:g.38652A>G | |
| NG_009770.2:g.83773A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261416.12:c.1243-2A>G MANE Select | ENSP00000261416.7:n.1243-2A>G | |
| ENST00000261416.11:c.1243-2A>G | ENSP00000261416.7:n.1243-2A>G | |
| ENST00000503312.5:c.119-2A>G | ||
| ENST00000504459.5:n.440-2A>G | ||
| ENST00000511181.5:c.568-2A>G | ENSP00000426285.1:n.568-2A>G | |
| ENST00000513336.5:c.179-2A>G | ||
| ENST00000513539.1:n.74-114A>G | ||
| NM_000521.3:c.1243-2A>G | NP_000512.1:n.1243-2A>G | |
| NM_001292004.1:c.568-2A>G | NP_001278933.1:n.568-2A>G | |
| NM_000521.4:c.1243-2A>G MANE Select | NP_000512.2:n.1243-2A>G | |
| NM_001292004.2:c.568-2A>G | NP_001278933.1:n.568-2A>G |