gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20518957 (SAS)
Genomes Max Group AF
0.20518957 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.88967071A>G , CM000669.2:g.88967071A>G | GRCh38 |
| NC_000007.13:g.88596385A>G , CM000669.1:g.88596385A>G | GRCh37 |
| NC_000007.12:g.88434321A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333190.5:c.108+206987A>G MANE Select | ENSP00000329638.4:n.108+206987A>G | |
| ENST00000333190.4:c.108+206987A>G | ENSP00000329638.4:n.108+206987A>G | |
| NM_181646.3:c.108+206987A>G | NP_857597.1:n.108+206987A>G | |
| NM_181646.4:c.108+206987A>G | NP_857597.1:n.108+206987A>G | |
| NM_181646.5:c.108+206987A>G MANE Select | NP_857597.1:n.108+206987A>G |