gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04244351 (NFE)
Genomes Max Group AF
0.04244756 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.25121983A>G , CM000669.2:g.25121983A>G | GRCh38 |
| NC_000007.13:g.25161602A>G , CM000669.1:g.25161602A>G | GRCh37 |
| NC_000007.12:g.25128127A>G | NCBI36 |
| NG_023438.1:g.8379T>C , LRG_876:g.8379T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305786.7:c.*1718T>C MANE Select | ENSP00000307786.2:n.*1718T>C | |
| ENST00000305786.6:c.*1718T>C | ENSP00000307786.2:n.*1718T>C | |
| NM_018947.5:c.*1718T>C , LRG_876t1:c.*1718T>C | NP_061820.1:n.*1718T>C | |
| NM_018947.6:c.*1718T>C MANE Select | NP_061820.1:n.*1718T>C |