gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25876572 (EAS)
Genomes Max Group AF
0.25876572 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.512951T>C , CM000668.2:g.512951T>C | GRCh38 |
| NC_000006.11:g.512951T>C , CM000668.1:g.512951T>C | GRCh37 |
| NC_000006.10:g.457951T>C | NCBI36 |
| NG_047166.1:g.185191A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230449.9:c.2381-13251A>G MANE Select | ENSP00000230449.4:n.2381-13251A>G | |
| ENST00000230449.8:c.2381-13251A>G | ENSP00000230449.4:n.2381-13251A>G | |
| NM_018303.5:c.2381-13251A>G | NP_060773.3:n.2381-13251A>G | |
| NR_073064.1:n.2709-13251A>G | ||
| XM_017011018.1:c.2381-13251A>G | XP_016866507.1:n.2381-13251A>G | |
| XM_017011019.1:c.2381-13251A>G | XP_016866508.1:n.2381-13251A>G | |
| XM_017011020.1:c.2381-13251A>G | XP_016866509.1:n.2381-13251A>G | |
| XM_017011021.1:c.2381-13251A>G | XP_016866510.1:n.2381-13251A>G | |
| XM_017011022.1:c.2381-13251A>G | XP_016866511.1:n.2381-13251A>G | |
| XM_017011023.1:c.2381-13251A>G | XP_016866512.1:n.2381-13251A>G | |
| XM_017011024.1:c.2381-13251A>G | XP_016866513.1:n.2381-13251A>G | |
| XM_017011025.1:c.*1003A>G | XP_016866514.1:n.*1003A>G | |
| NM_018303.6:c.2381-13251A>G MANE Select | NP_060773.3:n.2381-13251A>G | |
| NR_073064.2:n.2707-13251A>G |