gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26280876 (AFR)
Genomes Max Group AF
0.26280876 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30049294T>C , CM000668.2:g.30049294T>C | GRCh38 |
| NC_000006.11:g.30017071T>C , CM000668.1:g.30017071T>C | GRCh37 |
| NC_000006.10:g.30125050T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000701313.1:n.431+8821A>G | ||
| ENST00000701715.1:n.171+8821A>G | ||
| ENST00000702304.1:n.410+8821A>G | ||
| ENST00000685581.1:n.496+8821A>G | ||
| ENST00000688495.1:n.360+8821A>G | ||
| ENST00000376797.7:n.259+8821A>G | ||
| ENST00000420251.5:n.437+8821A>G | ||
| ENST00000421692.5:n.1152+7797A>G | ||
| ENST00000422224.5:n.456+8821A>G | ||
| ENST00000425604.5:n.264+8821A>G | ||
| ENST00000437417.5:n.976+8821A>G | ||
| ENST00000448093.5:n.479+8821A>G | ||
| NR_026751.1:n.437+8821A>G | ||
| NR_026751.2:n.442+8821A>G | ||
| NR_145416.1:n.442+8821A>G |