gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23617049 (NFE)
Genomes Max Group AF
0.23617049 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45852713A>G , CM000673.2:g.45852713A>G | GRCh38 |
| NC_000011.9:g.45874264A>G , CM000673.1:g.45874264A>G | GRCh37 |
| NC_000011.8:g.45830840A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616080.2:c.216-3269A>G MANE Select | ENSP00000484684.1:n.216-3269A>G | |
| ENST00000417225.6:c.33-3269A>G | ENSP00000397419.2:n.33-3269A>G | |
| ENST00000443527.6:c.279-3269A>G | ENSP00000406751.2:n.279-3269A>G | |
| ENST00000473199.5:n.229-3269A>G | ||
| ENST00000496571.5:n.229-3269A>G | ||
| ENST00000532390.5:n.229-3269A>G | ||
| ENST00000616080.1:c.216-3269A>G | ENSP00000484684.1:n.216-3269A>G | |
| ENST00000616623.4:c.279-3269A>G | ENSP00000478187.1:n.279-3269A>G | |
| NM_001127457.2:c.33-3269A>G | NP_001120929.1:n.33-3269A>G | |
| NM_021117.3:c.279-3269A>G | NP_066940.2:n.279-3269A>G | |
| NM_021117.4:c.216-3269A>G | NP_066940.3:n.216-3269A>G | |
| NM_021117.5:c.216-3269A>G MANE Select | NP_066940.3:n.216-3269A>G | |
| NM_001127457.3:c.33-3269A>G | NP_001120929.1:n.33-3269A>G |