gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02472422 (AFR)
Genomes Max Group AF
0.02473014 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74719876T>C , CM000677.2:g.74719876T>C | GRCh38 |
| NC_000015.9:g.75012217T>C , CM000677.1:g.75012217T>C | GRCh37 |
| NC_000015.8:g.72799270T>C | NCBI36 |
| NG_008431.1:g.2335T>C | |
| NG_008431.2:g.2335T>C | |
| NG_061374.1:g.10653A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379727.8:c.*613A>G MANE Select | ENSP00000369050.3:n.*613A>G | |
| ENST00000379727.7:c.*613A>G | ENSP00000369050.3:n.*613A>G | |
| ENST00000395048.6:c.*613A>G | ENSP00000378488.2:n.*613A>G | |
| ENST00000612821.4:c.2068A>G | ENSP00000479744.1:n.2068A>G | |
| ENST00000617691.4:c.*613A>G | ENSP00000482863.1:n.*613A>G | |
| NM_000499.3:c.*613A>G | NP_000490.1:n.*613A>G | |
| XM_005254185.1:c.*613A>G | XP_005254242.1:n.*613A>G | |
| NM_000499.5:c.*613A>G | NP_000490.1:n.*613A>G | |
| NM_001319216.2:c.*613A>G | NP_001306145.1:n.*613A>G | |
| NM_001319217.2:c.*613A>G MANE Select | NP_001306146.1:n.*613A>G |