ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00057657 (EAS)
Genomes Max Group AF
0.00015688 (EAS)
Exomes Max Group AF
0.00058758 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48884134A>C , CM000665.2:g.48884134A>C | GRCh38 |
| NC_000003.11:g.48921567A>C , CM000665.1:g.48921567A>C | GRCh37 |
| NC_000003.10:g.48896571A>C | NCBI36 |
| NG_008171.1:g.19763T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319017.5:c.199-10T>G MANE Select | ENSP00000326305.4:n.199-10T>G | |
| ENST00000319017.4:c.199-10T>G | ENSP00000326305.4:n.199-10T>G | |
| ENST00000430379.5:c.198+7846T>G | ENSP00000388986.1:n.198+7846T>G | |
| ENST00000440964.1:c.*29-10T>G | ENSP00000388563.1:n.*29-10T>G | |
| NM_000387.5:c.199-10T>G | NP_000378.1:n.199-10T>G | |
| XM_006713327.1:c.199-10T>G | XP_006713390.1:n.199-10T>G | |
| NM_000387.6:c.199-10T>G MANE Select | NP_000378.1:n.199-10T>G |