gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39745579 (EAS)
Genomes Max Group AF
0.39745579 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119399949T>G , CM000665.2:g.119399949T>G | GRCh38 |
| NC_000003.11:g.119118796T>G , CM000665.1:g.119118796T>G | GRCh37 |
| NC_000003.10:g.120601486T>G | NCBI36 |
| NG_007665.2:g.110577T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.1069+688T>G MANE Select | ENSP00000264245.4:n.1069+688T>G | |
| ENST00000264245.8:c.1069+688T>G | ENSP00000264245.4:n.1069+688T>G | |
| NM_020754.3:c.1069+688T>G | NP_065805.2:n.1069+688T>G | |
| XM_005247671.3:c.976+688T>G | XP_005247728.1:n.976+688T>G | |
| XM_006713714.2:c.1069+688T>G | XP_006713777.1:n.1069+688T>G | |
| XR_924388.1:n.202A>C | ||
| XM_006713714.3:c.1069+688T>G | XP_006713777.1:n.1069+688T>G | |
| XM_017006955.1:c.577+688T>G | XP_016862444.1:n.577+688T>G | |
| NM_020754.4:c.1069+688T>G MANE Select | NP_065805.2:n.1069+688T>G |