gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61594794 (MID)
Genomes Max Group AF
0.56913874 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61353181T>C , CM000682.2:g.61353181T>C | GRCh38 |
| NC_000020.10:g.59928237T>C , CM000682.1:g.59928237T>C | GRCh37 |
| NC_000020.9:g.59361632T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614565.5:c.169+98244T>C MANE Select | ENSP00000484928.1:n.169+98244T>C | |
| ENST00000614565.4:c.169+98244T>C | ENSP00000484928.1:n.169+98244T>C | |
| NM_001794.4:c.169+98244T>C | NP_001785.2:n.169+98244T>C | |
| NM_001794.5:c.169+98244T>C MANE Select | NP_001785.2:n.169+98244T>C |