gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90931546 (EAS)
Genomes Max Group AF
0.90931546 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169276576A>C , CM000664.2:g.169276576A>C | GRCh38 |
| NC_000002.11:g.170133086A>C , CM000664.1:g.170133086A>C | GRCh37 |
| NC_000002.10:g.169841332A>C | NCBI36 |
| NG_012634.1:g.91037T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.1772+1169T>G MANE Select | ENSP00000496870.1:n.1772+1169T>G | |
| ENST00000263816.7:c.1772+1169T>G | ENSP00000263816.3:n.1772+1169T>G | |
| ENST00000443831.1:c.1566-1338T>G | ENSP00000409813.1:n.1566-1338T>G | |
| NM_004525.2:c.1772+1169T>G | NP_004516.2:n.1772+1169T>G | |
| XM_011511183.1:c.1772+1169T>G | XP_011509485.1:n.1772+1169T>G | |
| XM_011511185.1:c.1772+1169T>G | XP_011509487.1:n.1772+1169T>G | |
| NM_004525.3:c.1772+1169T>G MANE Select | NP_004516.2:n.1772+1169T>G | |
| XM_011511183.3:c.1772+1169T>G | XP_011509485.1:n.1772+1169T>G |