gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.88642849 (AFR)
Genomes Max Group AF
0.88642849 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92666838A>C , CM000671.2:g.92666838A>C | GRCh38 |
| NC_000009.11:g.95429120A>C , CM000671.1:g.95429120A>C | GRCh37 |
| NC_000009.10:g.94468941A>C | NCBI36 |
| NG_027879.1:g.8428T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375522.2:c.81+3070T>G | ENSP00000364672.2:n.81+3070T>G | |
| ENST00000287996.8:c.81+3070T>G MANE Select | ENSP00000287996.3:n.81+3070T>G | |
| ENST00000287996.7:c.81+3070T>G | ENSP00000287996.3:n.81+3070T>G | |
| NM_022755.5:c.81+3070T>G | NP_073592.1:n.81+3070T>G | |
| XM_006717235.1:c.81+3070T>G | XP_006717298.1:n.81+3070T>G | |
| XM_017015041.1:c.81+3070T>G | XP_016870530.1:n.81+3070T>G | |
| XR_001746365.1:n.352+3070T>G | ||
| NM_022755.6:c.81+3070T>G MANE Select | NP_073592.1:n.81+3070T>G |