gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83965929 (EAS)
Genomes Max Group AF
0.83965929 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.39352849A>G , CM000684.2:g.39352849A>G | GRCh38 |
| NC_000022.10:g.39748854A>G , CM000684.1:g.39748854A>G | GRCh37 |
| NC_000022.9:g.38078800A>G | NCBI36 |
| NG_047102.1:g.7901A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328933.10:c.99+2740A>G MANE Select | ENSP00000332287.5:n.99+2740A>G | |
| ENST00000216155.11:c.99+2740A>G | ENSP00000216155.7:n.99+2740A>G | |
| ENST00000318801.8:c.99+2740A>G | ENSP00000318845.4:n.99+2740A>G | |
| ENST00000328933.9:c.99+2740A>G | ENSP00000332287.5:n.99+2740A>G | |
| ENST00000406293.7:c.99+2740A>G | ENSP00000385447.3:n.99+2740A>G | |
| ENST00000415332.1:c.99+2740A>G | ENSP00000412442.1:n.99+2740A>G | |
| ENST00000489206.1:n.104+2740A>G | ||
| NM_004711.4:c.99+2740A>G | NP_004702.2:n.99+2740A>G | |
| NM_145731.3:c.99+2740A>G | NP_663783.1:n.99+2740A>G | |
| NM_004711.5:c.99+2740A>G MANE Select | NP_004702.2:n.99+2740A>G | |
| NM_145731.4:c.99+2740A>G | NP_663783.1:n.99+2740A>G |