gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61189773 (AFR)
Genomes Max Group AF
0.61189773 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46057233C>T , CM000666.2:g.46057233C>T | GRCh38 |
| NC_000004.11:g.46059250C>T , CM000666.1:g.46059250C>T | GRCh37 |
| NC_000004.10:g.45754007C>T | NCBI36 |
| NG_046964.1:g.71833G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295452.5:c.916+984G>A MANE Select | ENSP00000295452.4:n.916+984G>A | |
| ENST00000295452.4:c.916+984G>A | ENSP00000295452.4:n.916+984G>A | |
| NM_173536.3:c.916+984G>A | NP_775807.2:n.916+984G>A | |
| XM_017007990.2:c.529+984G>A | XP_016863479.1:n.529+984G>A | |
| NM_173536.4:c.916+984G>A MANE Select | NP_775807.2:n.916+984G>A |