gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00702908 (NFE)
Genomes Max Group AF
0.00660645 (NFE)
Exomes Max Group AF
0.0070276 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46739363C>T , CM000673.2:g.46739363C>T | GRCh38 |
| NC_000011.9:g.46760913C>T , CM000673.1:g.46760913C>T | GRCh37 |
| NC_000011.8:g.46717489C>T | NCBI36 |
| NG_008953.1:g.25171C>T , LRG_551:g.25171C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.1824C>T MANE Select | ENSP00000308541.5:p.Arg608= | |
| ENST00000311907.9:c.1824C>T | ENSP00000308541.5:p.Arg608= | |
| ENST00000530231.5:c.1707C>T | ENSP00000433907.1:p.Arg569= | |
| NM_000506.3:c.1824C>T | NP_000497.1:p.Arg608= | |
| NM_000506.4:c.1824C>T , LRG_551t1:c.1824C>T | NP_000497.1:p.Arg608= | |
| NM_001311257.1:c.1776C>T | NP_001298186.1:p.Arg592= | |
| XR_428840.4:n.1677C>T | ||
| NM_000506.5:c.1824C>T MANE Select | NP_000497.1:p.Arg608= | |
| NM_001311257.2:c.1776C>T | NP_001298186.1:p.Arg592= |