gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6441489 (NFE)
Genomes Max Group AF
0.6441489 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68649245G>A , CM000666.2:g.68649245G>A | GRCh38 |
| NC_000004.11:g.69514963G>A , CM000666.1:g.69514963G>A | GRCh37 |
| NC_000004.10:g.69197558G>A | NCBI36 |
| NG_052676.1:g.26532C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.1314-1862C>T MANE Select | ENSP00000341045.5:n.1314-1862C>T | |
| ENST00000338206.5:c.1314-1862C>T | ENSP00000341045.5:n.1314-1862C>T | |
| ENST00000616841.4:c.1314-1862C>T | ENSP00000482004.1:n.1314-1862C>T | |
| NM_001076.3:c.1314-1862C>T | NP_001067.2:n.1314-1862C>T | |
| NM_001076.4:c.1314-1862C>T MANE Select | NP_001067.2:n.1314-1862C>T |