gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64493367 (SAS)
Genomes Max Group AF
0.64493367 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.123736506G>A , CM000669.2:g.123736506G>A | GRCh38 |
| NC_000007.13:g.123376560G>A , CM000669.1:g.123376560G>A | GRCh37 |
| NC_000007.12:g.123163796G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223023.5:c.117+12112C>T MANE Select | ENSP00000223023.4:n.117+12112C>T | |
| ENST00000223023.4:c.117+12112C>T | ENSP00000223023.4:n.117+12112C>T | |
| NM_003941.3:c.117+12112C>T | NP_003932.3:n.117+12112C>T | |
| NM_003941.4:c.117+12112C>T MANE Select | NP_003932.3:n.117+12112C>T |