gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.84281661 (SAS)
Genomes Max Group AF
0.84281661 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.77461407C>T , CM000668.2:g.77461407C>T | GRCh38 |
| NC_000006.11:g.78171124C>T , CM000668.1:g.78171124C>T | GRCh37 |
| NC_000006.10:g.78227843C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369947.5:c.*824G>A MANE Select | ENSP00000358963.3:n.*824G>A | |
| NM_000863.2:c.*824G>A | NP_000854.1:n.*824G>A | |
| XR_942706.1:n.545-13119C>T | ||
| XR_942707.1:n.545-13119C>T | ||
| XR_942708.1:n.545-13119C>T | ||
| XR_942709.1:n.545-13119C>T | ||
| XR_942708.2:n.545-13119C>T | ||
| NM_000863.3:c.*824G>A MANE Select | NP_000854.1:n.*824G>A |