gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55943228 (AMR)
Genomes Max Group AF
0.55943228 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6694990G>C , CM000681.2:g.6694990G>C | GRCh38 |
| NC_000019.9:g.6695001G>C , CM000681.1:g.6695001G>C | GRCh37 |
| NC_000019.8:g.6646001G>C | NCBI36 |
| NG_009557.1:g.30662C>G , LRG_27:g.30662C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.1299-356C>G | ||
| ENST00000695652.1:c.2828-356C>G | ENSP00000512083.1:n.2828-356C>G | |
| ENST00000695653.1:c.860-356C>G | ENSP00000512084.1:n.860-356C>G | |
| ENST00000695654.1:c.2075-356C>G | ENSP00000512085.1:n.2075-356C>G | |
| ENST00000695655.1:c.1892-356C>G | ENSP00000512086.1:n.1892-356C>G | |
| ENST00000695692.1:n.2315-356C>G | ||
| ENST00000245907.11:c.2951-356C>G MANE Select | ENSP00000245907.4:n.2951-356C>G | |
| ENST00000245907.10:c.2951-356C>G | ENSP00000245907.4:n.2951-356C>G | |
| NM_000064.3:c.2951-356C>G | NP_000055.2:n.2951-356C>G | |
| NM_000064.4:c.2951-356C>G MANE Select | NP_000055.2:n.2951-356C>G |