gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.84811438 (EAS)
Genomes Max Group AF
0.84811438 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96504219T>C , CM000669.2:g.96504219T>C | GRCh38 |
| NC_000007.13:g.96133531T>C , CM000669.1:g.96133531T>C | GRCh37 |
| NC_000007.12:g.95971467T>C | NCBI36 |
| NG_009273.2:g.210673A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466986.5:c.*60+2404A>G | ENSP00000481400.1:n.*60+2404A>G | |
| ENST00000613919.4:c.*252+2404A>G | ENSP00000482085.1:n.*252+2404A>G | |
| ENST00000617133.4:c.*198+2404A>G | ENSP00000484726.1:n.*198+2404A>G | |
| ENST00000618105.4:c.*116+2404A>G | ENSP00000484478.1:n.*116+2404A>G | |
| ENST00000619259.4:c.*60+2404A>G | ENSP00000480885.1:n.*60+2404A>G | |
| XR_927780.1:n.461+26T>C | ||
| NM_001349698.1:c.30+2404A>G | NP_001336627.1:n.30+2404A>G | |
| NM_001349700.1:c.30+2404A>G | NP_001336629.1:n.30+2404A>G | |
| NM_001349701.1:c.-47+2404A>G | NP_001336630.1:n.-47+2404A>G | |
| NM_001349702.1:c.-47+2404A>G | NP_001336631.1:n.-47+2404A>G | |
| XR_927780.2:n.517+26T>C | ||
| NR_163950.1:n.536+2404A>G | ||
| NR_163951.1:n.329+2404A>G | ||
| NR_163952.1:n.458+2404A>G | ||
| NR_163953.1:n.329+2404A>G |