gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81390139 (EAS)
Genomes Max Group AF
0.81390139 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.88298077G>C , CM000669.2:g.88298077G>C | GRCh38 |
| NC_000007.13:g.87927392G>C , CM000669.1:g.87927392G>C | GRCh37 |
| NC_000007.12:g.87765328G>C | NCBI36 |
| NG_028313.1:g.13837C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380079.9:c.-3+8715C>G MANE Select | ENSP00000369419.4:n.-3+8715C>G | |
| ENST00000301959.9:c.-3+8715C>G | ENSP00000305545.5:n.-3+8715C>G | |
| ENST00000380079.8:c.-3+8715C>G | ENSP00000369419.4:n.-3+8715C>G | |
| ENST00000414498.1:c.-101-7063C>G | ENSP00000394399.1:n.-101-7063C>G | |
| NM_001205315.1:c.-101-7063C>G | NP_001192244.1:n.-101-7063C>G | |
| NM_001205316.1:c.-3+8715C>G | NP_001192245.1:n.-3+8715C>G | |
| NM_024636.3:c.-3+8715C>G | NP_078912.2:n.-3+8715C>G | |
| NM_001205315.2:c.-101-7063C>G | NP_001192244.1:n.-101-7063C>G | |
| NM_001205316.2:c.-3+8715C>G | NP_001192245.1:n.-3+8715C>G | |
| NM_024636.4:c.-3+8715C>G MANE Select | NP_078912.2:n.-3+8715C>G |