gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27011387 (AFR)
Genomes Max Group AF
0.27011387 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30036275C>T , CM000668.2:g.30036275C>T | GRCh38 |
| NC_000006.11:g.30004052C>T , CM000668.1:g.30004052C>T | GRCh37 |
| NC_000006.10:g.30112031C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000701313.1:n.432-292G>A | ||
| ENST00000701715.1:n.172-292G>A | ||
| ENST00000702304.1:n.410+21840G>A | ||
| ENST00000685581.1:n.497-14514G>A | ||
| ENST00000688495.1:n.360+21840G>A | ||
| ENST00000376797.7:n.260-292G>A | ||
| ENST00000420251.5:n.438-292G>A | ||
| ENST00000421692.5:n.1153-292G>A | ||
| ENST00000422224.5:n.457-292G>A | ||
| ENST00000425604.5:n.264+21840G>A | ||
| ENST00000437417.5:n.977-292G>A | ||
| ENST00000448093.5:n.480-14514G>A | ||
| NR_026751.1:n.438-292G>A | ||
| NR_026751.2:n.443-292G>A | ||
| NR_145416.1:n.443-292G>A |