gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38127213 (EAS)
Genomes Max Group AF
0.38127213 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43937814T>G , CM000684.2:g.43937814T>G | GRCh38 |
| NC_000022.10:g.44333694T>G , CM000684.1:g.44333694T>G | GRCh37 |
| NC_000022.9:g.42665027T>G | NCBI36 |
| NG_008631.1:g.19076T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.979+542T>G MANE Select | ENSP00000216180.3:n.979+542T>G | |
| ENST00000216180.7:c.979+542T>G | ENSP00000216180.3:n.979+542T>G | |
| ENST00000406117.6:c.*611+542T>G | ENSP00000384668.2:n.*611+542T>G | |
| ENST00000423180.2:c.967+542T>G | ENSP00000397987.2:n.967+542T>G | |
| ENST00000497129.1:n.364+542T>G | ||
| NM_025225.2:c.979+542T>G | NP_079501.2:n.979+542T>G | |
| NM_025225.3:c.979+542T>G MANE Select | NP_079501.2:n.979+542T>G |