gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54050717 (SAS)
Genomes Max Group AF
0.54050717 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.63178651T>C , CM000680.2:g.63178651T>C | GRCh38 |
| NC_000018.9:g.60845884T>C , CM000680.1:g.60845884T>C | GRCh37 |
| NC_000018.8:g.58996864T>C | NCBI36 |
| NG_009361.1:g.145730A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333681.5:c.586-49892A>G MANE Select | ENSP00000329623.3:n.586-49892A>G | |
| ENST00000677227.1:c.914-49892A>G | ENSP00000504566.1:n.914-49892A>G | |
| ENST00000678134.1:c.790-49892A>G | ENSP00000503628.1:n.790-49892A>G | |
| ENST00000678349.1:c.1138-49892A>G | ENSP00000504190.1:n.1138-49892A>G | |
| ENST00000333681.4:c.586-49892A>G | ENSP00000329623.3:n.586-49892A>G | |
| ENST00000398117.1:c.586-49892A>G | ENSP00000381185.1:n.586-49892A>G | |
| NM_000633.2:c.586-49892A>G | NP_000624.2:n.586-49892A>G | |
| XR_935246.1:n.2026-49892A>G | ||
| XR_935248.1:n.1805-49892A>G | ||
| XR_935248.3:n.2307-49892A>G | ||
| NM_000633.3:c.586-49892A>G MANE Select | NP_000624.2:n.586-49892A>G |