gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00063631 (NFE)
Genomes Max Group AF
0.00054679 (NFE)
Exomes Max Group AF
0.00063292 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7555673C>T , CM000681.2:g.7555673C>T | GRCh38 |
| NC_000019.9:g.7620559C>T , CM000681.1:g.7620559C>T | GRCh37 |
| NC_000019.8:g.7526559C>T | NCBI36 |
| NG_013374.1:g.26522C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.3003C>T MANE Select | ENSP00000473211.1:p.Gly1001= | |
| ENST00000646984.1:c.174C>T | ENSP00000496219.1:p.Gly58= | |
| ENST00000221249.10:c.2889C>T | ENSP00000221249.5:p.Gly963= | |
| ENST00000414982.7:c.3033C>T | ENSP00000407509.2:p.Gly1011= | |
| ENST00000450331.7:c.2889C>T | ENSP00000394348.2:p.Gly963= | |
| ENST00000545201.6:c.2808C>T | ENSP00000443323.1:p.Gly936= | |
| ENST00000600737.5:c.3003C>T | ENSP00000473211.1:p.Gly1001= | |
| NM_001166111.1:c.3033C>T | NP_001159583.1:p.Gly1011= | |
| NM_001166112.1:c.2808C>T | NP_001159584.1:p.Gly936= | |
| NM_001166113.1:c.2889C>T | NP_001159585.1:p.Gly963= | |
| NM_001166114.1:c.3003C>T | NP_001159586.1:p.Gly1001= | |
| NM_006702.4:c.2889C>T | NP_006693.3:p.Gly963= | |
| NM_001166111.2:c.3033C>T | NP_001159583.1:p.Gly1011= | |
| NM_001166114.2:c.3003C>T MANE Select | NP_001159586.1:p.Gly1001= | |
| NM_006702.5:c.2889C>T | NP_006693.3:p.Gly963= | |
| NM_001166112.2:c.2808C>T | NP_001159584.1:p.Gly936= |