gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.88829774 (AFR)
Genomes Max Group AF
0.88315075 (AFR)
Exomes Max Group AF
0.88967275 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6679349T>C , CM000681.2:g.6679349T>C | GRCh38 |
| NC_000019.9:g.6679360T>C , CM000681.1:g.6679360T>C | GRCh37 |
| NC_000019.8:g.6630360T>C | NCBI36 |
| NG_009557.1:g.46303A>G , LRG_27:g.46303A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2894+58A>G | ||
| ENST00000695653.1:c.2455+58A>G | ENSP00000512084.1:n.2455+58A>G | |
| ENST00000695654.1:c.3571+58A>G | ENSP00000512085.1:n.3571+58A>G | |
| ENST00000695689.1:c.517+58A>G | ENSP00000512101.1:n.517+58A>G | |
| ENST00000695690.1:n.1611+58A>G | ||
| ENST00000695691.1:n.1407+58A>G | ||
| ENST00000245907.11:c.4546+58A>G MANE Select | ENSP00000245907.4:n.4546+58A>G | |
| ENST00000245907.10:c.4546+58A>G | ENSP00000245907.4:n.4546+58A>G | |
| ENST00000599668.1:n.166+33A>G | ||
| ENST00000599899.5:n.1505+58A>G | ||
| ENST00000601008.1:c.242-1391A>G | ENSP00000471384.1:n.242-1391A>G | |
| NM_000064.3:c.4546+58A>G | NP_000055.2:n.4546+58A>G | |
| NM_000064.4:c.4546+58A>G MANE Select | NP_000055.2:n.4546+58A>G |