ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00040175 (NFE)
Genomes Max Group AF
0.00031672 (NFE)
Exomes Max Group AF
0.00040028 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64747268G>A , CM000673.2:g.64747268G>A | GRCh38 |
| NC_000011.9:g.64514740G>A , CM000673.1:g.64514740G>A | GRCh37 |
| NC_000011.8:g.64271316G>A | NCBI36 |
| NG_007574.1:g.3189C>T , LRG_100:g.3189C>T | |
| NG_013018.1:g.18448C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.2268C>T MANE Select | ENSP00000164139.3:p.Pro756= | |
| ENST00000164139.3:c.2268C>T | ENSP00000164139.3:p.Pro756= | |
| ENST00000377432.7:c.2004C>T | ENSP00000366650.3:p.Pro668= | |
| ENST00000483742.1:n.1621C>T | ||
| NM_001164716.1:c.2004C>T | NP_001158188.1:p.Pro668= | |
| NM_005609.2:c.2268C>T | NP_005600.1:p.Pro756= | |
| NM_005609.3:c.2268C>T | NP_005600.1:p.Pro756= | |
| NM_005609.4:c.2268C>T MANE Select | NP_005600.1:p.Pro756= |