gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65464985 (EAS)
Genomes Max Group AF
0.65464985 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46331069T>G , CM000664.2:g.46331069T>G | GRCh38 |
| NC_000002.11:g.46558208T>G , CM000664.1:g.46558208T>G | GRCh37 |
| NC_000002.10:g.46411712T>G | NCBI36 |
| NG_016000.1:g.38668T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263734.5:c.27-15804T>G MANE Select | ENSP00000263734.3:n.27-15804T>G | |
| ENST00000263734.4:c.27-15804T>G | ENSP00000263734.3:n.27-15804T>G | |
| ENST00000449347.5:c.27-15804T>G | ENSP00000406137.1:n.27-15804T>G | |
| ENST00000460015.1:n.433-15804T>G | ||
| ENST00000467888.5:n.175-15804T>G | ||
| NM_001430.4:c.27-15804T>G | NP_001421.2:n.27-15804T>G | |
| XM_011532698.1:c.65+5193T>G | XP_011531000.1:n.65+5193T>G | |
| XR_940055.1:n.2355+4715A>C | ||
| XM_011532698.2:c.65+5193T>G | XP_011531000.1:n.65+5193T>G | |
| NM_001430.5:c.27-15804T>G MANE Select | NP_001421.2:n.27-15804T>G |