gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78581325 (AFR)
Genomes Max Group AF
0.78581325 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26280826A>G , CM000672.2:g.26280826A>G | GRCh38 |
| NC_000010.10:g.26569755A>G , CM000672.1:g.26569755A>G | GRCh37 |
| NC_000010.9:g.26609761A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376261.8:c.1158-183A>G MANE Select | ENSP00000365437.3:n.1158-183A>G | |
| ENST00000648567.1:c.816-183A>G | ENSP00000498009.1:n.816-183A>G | |
| ENST00000259271.7:c.1158-183A>G | ENSP00000259271.3:n.1158-183A>G | |
| ENST00000376261.7:c.1158-183A>G | ENSP00000365437.3:n.1158-183A>G | |
| NM_000818.2:c.1158-183A>G | NP_000809.1:n.1158-183A>G | |
| NM_001134366.1:c.1158-183A>G | NP_001127838.1:n.1158-183A>G | |
| NM_001134366.2:c.1158-183A>G MANE Select | NP_001127838.1:n.1158-183A>G | |
| NM_000818.3:c.1158-183A>G | NP_000809.1:n.1158-183A>G |