ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00021271 (NFE)
Genomes Max Group AF
0.00017083 (NFE)
Exomes Max Group AF
0.00020984 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17088185G>A , CM000672.2:g.17088185G>A | GRCh38 |
| NC_000010.10:g.17130184G>A , CM000672.1:g.17130184G>A | GRCh37 |
| NC_000010.9:g.17170190G>A | NCBI36 |
| NG_008967.1:g.46633C>T , LRG_540:g.46633C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.1926C>T MANE Select | ENSP00000367064.4:p.Asp642= | |
| ENST00000377833.8:c.1926C>T | ENSP00000367064.4:p.Asp642= | |
| NM_001081.3:c.1926C>T , LRG_540t1:c.1926C>T | NP_001072.2:p.Asp642= | |
| XM_011519708.1:c.1926C>T | XP_011518010.1:p.Asp642= | |
| XM_011519708.2:c.1926C>T | XP_011518010.1:p.Asp642= | |
| NM_001081.4:c.1926C>T MANE Select | NP_001072.2:p.Asp642= |