gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5325563 (EAS)
Genomes Max Group AF
0.5325563 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186550471T>C , CM000666.2:g.186550471T>C | GRCh38 |
| NC_000004.11:g.187471625T>C , CM000666.1:g.187471625T>C | GRCh37 |
| NC_000004.10:g.187708619T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703170.1:c.184+4711A>G | ENSP00000515216.1:n.184+4711A>G | |
| ENST00000307161.5:c.184+4711A>G MANE Select | ENSP00000302811.5:n.184+4711A>G | |
| ENST00000509111.2:c.147+4711A>G | ||
| NM_005958.3:c.184+4711A>G | NP_005949.1:n.184+4711A>G | |
| NM_005958.4:c.184+4711A>G MANE Select | NP_005949.1:n.184+4711A>G |