dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68913128 (SAS)
Genomes Max Group AF
0.68913128 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.224035127T>C , CM000664.2:g.224035127T>C | GRCh38 |
| NC_000002.11:g.224899844T>C , CM000664.1:g.224899844T>C | GRCh37 |
| NC_000002.10:g.224608088T>C | NCBI36 |
| NG_032907.1:g.9193A>G | |
| NG_032907.2:g.9193A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258405.9:c.-23+3972A>G | ENSP00000258405.4:n.-23+3972A>G | |
| ENST00000409304.6:c.-23+3972A>G MANE Select | ENSP00000386412.1:n.-23+3972A>G | |
| ENST00000258405.8:c.-23+3972A>G | ENSP00000258405.4:n.-23+3972A>G | |
| ENST00000409304.5:c.-23+3972A>G | ENSP00000386412.1:n.-23+3972A>G | |
| ENST00000447280.6:c.14+3363A>G | ENSP00000415786.2:n.14+3363A>G | |
| ENST00000454956.1:c.-67+3972A>G | ENSP00000399655.1:n.-67+3972A>G | |
| ENST00000489065.1:n.192+3972A>G | ||
| NM_001136528.1:c.-23+3972A>G | NP_001130000.1:n.-23+3972A>G | |
| NM_001136530.1:c.14+3363A>G | NP_001130002.1:n.14+3363A>G | |
| NM_006216.3:c.-23+3972A>G | NP_006207.1:n.-23+3972A>G | |
| XM_005246641.2:c.14+3363A>G | XP_005246698.1:n.14+3363A>G | |
| NM_001136528.2:c.-23+3972A>G MANE Select | NP_001130000.1:n.-23+3972A>G | |
| NM_006216.4:c.-23+3972A>G | NP_006207.1:n.-23+3972A>G |