gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00120328 (NFE)
Genomes Max Group AF
0.00084775 (NFE)
Exomes Max Group AF
0.00121395 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.792011C>T , CM000673.2:g.792011C>T | GRCh38 |
| NC_000011.9:g.792011C>T , CM000673.1:g.792011C>T | GRCh37 |
| NC_000011.8:g.782011C>T | NCBI36 |
| NG_023407.1:g.11259G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000628067.3:c.876G>A MANE Select | ENSP00000486058.1:p.Ala292= | |
| ENST00000320230.9:c.876G>A | ENSP00000322020.5:p.Ala292= | |
| ENST00000531214.5:c.876G>A | ENSP00000437236.1:p.Ala292= | |
| ENST00000628067.2:c.876G>A | ENSP00000486058.1:p.Ala292= | |
| NM_001191060.1:c.876G>A | NP_001177989.1:p.Ala292= | |
| NM_001191061.1:c.876G>A | NP_001177990.1:p.Ala292= | |
| NM_024698.5:c.876G>A | NP_078974.1:p.Ala292= | |
| XM_011520369.1:c.876G>A | XP_011518671.1:p.Ala292= | |
| XM_011520370.1:c.876G>A | XP_011518672.1:p.Ala292= | |
| XM_011520371.1:c.876G>A | XP_011518673.1:p.Ala292= | |
| XM_011520370.2:c.876G>A | XP_011518672.1:p.Ala292= | |
| XM_011520371.2:c.876G>A | XP_011518673.1:p.Ala292= | |
| XM_024448687.1:c.876G>A | XP_024304455.1:p.Ala292= | |
| XM_024448688.1:c.876G>A | XP_024304456.1:p.Ala292= | |
| XM_024448689.1:c.876G>A | XP_024304457.1:p.Ala292= | |
| NM_001191061.2:c.876G>A MANE Select | NP_001177990.1:p.Ala292= | |
| NM_024698.6:c.876G>A | NP_078974.1:p.Ala292= | |
| NM_001191060.2:c.876G>A | NP_001177989.1:p.Ala292= |