gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.00000309 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649519C>G , CM000671.2:g.34649519C>G | GRCh38 |
| NC_000009.11:g.34649516C>G , CM000671.1:g.34649516C>G | GRCh37 |
| NC_000009.10:g.34639516C>G | NCBI36 |
| NG_009029.1:g.7882C>G | |
| NG_028966.1:g.2335C>G | |
| NG_009029.2:g.7931C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*602C>G | ENSP00000509954.1:n.*602C>G | |
| ENST00000378842.8:c.1014C>G MANE Select | ENSP00000368119.4:p.Gly338= | |
| ENST00000378842.7:c.1014C>G | ENSP00000368119.3:p.Gly338= | |
| ENST00000450095.6:c.687C>G | ENSP00000401956.2:p.Gly229= | |
| ENST00000488412.2:n.598C>G | ||
| ENST00000489643.6:n.1422C>G | ||
| ENST00000554550.5:c.*634C>G | ENSP00000451435.1:n.*634C>G | |
| ENST00000554638.5:n.1486C>G | ||
| ENST00000555020.5:n.1803C>G | ||
| ENST00000555754.1:n.462C>G | ||
| ENST00000556278.1:c.432+1063C>G | ENSP00000451792.1:n.432+1063C>G | |
| ENST00000557706.5:n.1589C>G | ||
| NM_000155.3:c.1014C>G | NP_000146.2:p.Gly338= | |
| NM_001258332.1:c.687C>G | NP_001245261.1:p.Gly229= | |
| NM_000155.4:c.1014C>G MANE Select | NP_000146.2:p.Gly338= | |
| NM_001258332.2:c.687C>G | NP_001245261.1:p.Gly229= |