gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78736068 (SAS)
Genomes Max Group AF
0.78736068 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120938501T>C , CM000671.2:g.120938501T>C | GRCh38 |
| NC_000009.11:g.123700779T>C , CM000671.1:g.123700779T>C | GRCh37 |
| NC_000009.10:g.122740600T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696279.1:c.5899-4547A>G | ||
| ENST00000696280.1:n.5668-4547A>G | ||
| ENST00000696281.1:c.*548-4547A>G | ENSP00000512521.1:n.*548-4547A>G | |
| ENST00000697921.1:n.4457-4547A>G | ||
| ENST00000697922.1:c.*5569-4547A>G | ENSP00000513478.1:n.*5569-4547A>G |