gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11677479 (AFR)
Genomes Max Group AF
0.11677479 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69369207A>G , CM000674.2:g.69369207A>G | GRCh38 |
| NC_000012.11:g.69762987A>G , CM000674.1:g.69762987A>G | GRCh37 |
| NC_000012.10:g.68049254A>G | NCBI36 |
| NG_052956.1:g.14498A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247843.7:c.334-1499A>G MANE Select | ENSP00000247843.2:n.334-1499A>G | |
| ENST00000247843.6:c.334-1499A>G | ENSP00000247843.2:n.334-1499A>G | |
| ENST00000548020.5:c.172-1499A>G | ENSP00000447199.1:n.172-1499A>G | |
| ENST00000549685.5:c.160-1499A>G | ENSP00000448106.1:n.160-1499A>G | |
| ENST00000552955.1:c.457-1499A>G | ENSP00000446985.1:n.457-1499A>G | |
| NM_001300950.1:c.172-1499A>G | NP_001287879.1:n.172-1499A>G | |
| NM_006530.3:c.334-1499A>G | NP_006521.1:n.334-1499A>G | |
| XR_944742.1:n.607-1499A>G | ||
| XR_001748876.1:n.602-1499A>G | ||
| XR_944742.3:n.602-1499A>G | ||
| NM_006530.4:c.334-1499A>G MANE Select | NP_006521.1:n.334-1499A>G | |
| NM_001300950.2:c.172-1499A>G | NP_001287879.1:n.172-1499A>G |