gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59459437 (EAS)
Genomes Max Group AF
0.59459437 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.85122635T>C , CM000669.2:g.85122635T>C | GRCh38 |
| NC_000007.13:g.84751951T>C , CM000669.1:g.84751951T>C | GRCh37 |
| NC_000007.12:g.84589887T>C | NCBI36 |
| NG_051329.1:g.69221A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284136.11:c.-40-704A>G MANE Select | ENSP00000284136.6:n.-40-704A>G | |
| ENST00000444867.1:c.-40-704A>G | ENSP00000401366.1:n.-40-704A>G | |
| XM_011515960.1:c.-40-704A>G | XP_011514262.1:n.-40-704A>G | |
| XM_017011873.1:c.-40-704A>G | XP_016867362.1:n.-40-704A>G | |
| NM_001384900.1:c.-40-704A>G MANE Select | NP_001371829.1:n.-40-704A>G | |
| NM_001384901.1:c.-40-704A>G | NP_001371830.1:n.-40-704A>G | |
| NM_001384902.1:c.-40-704A>G | NP_001371831.1:n.-40-704A>G | |
| NM_001384903.1:c.-40-704A>G | NP_001371832.1:n.-40-704A>G | |
| NM_152754.3:c.-40-704A>G | NP_689967.2:n.-40-704A>G |