gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08799329 (AMR)
Genomes Max Group AF
0.08799329 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128860981G>C , CM000673.2:g.128860981G>C | GRCh38 |
| NC_000011.9:g.128730876G>C , CM000673.1:g.128730876G>C | GRCh37 |
| NC_000011.8:g.128236086G>C | NCBI36 |
| NG_009379.1:g.11393C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.-192+6192C>G MANE Select | ENSP00000376434.1:n.-192+6192C>G | |
| ENST00000324003.3:c.-192+6192C>G | ENSP00000316136.3:n.-192+6192C>G | |
| ENST00000324036.7:c.-192+5542C>G | ENSP00000316233.3:n.-192+5542C>G | |
| ENST00000392665.6:c.-22+6192C>G | ENSP00000376433.2:n.-22+6192C>G | |
| ENST00000392666.5:c.-192+6192C>G | ENSP00000376434.1:n.-192+6192C>G | |
| ENST00000440599.6:c.-22+5542C>G | ENSP00000406320.2:n.-22+5542C>G | |
| ENST00000531562.1:n.124+6192C>G | ||
| NM_153764.2:c.-22+6192C>G | NP_722448.1:n.-22+6192C>G | |
| NM_153765.2:c.30+5542C>G | NP_722449.3:n.30+5542C>G | |
| NM_153766.2:c.-192+6192C>G | NP_722450.1:n.-192+6192C>G | |
| NM_153767.3:c.-192+5542C>G | NP_722451.1:n.-192+5542C>G | |
| XR_001748442.1:n.3419-2916G>C | ||
| NM_153764.3:c.-22+6192C>G | NP_722448.1:n.-22+6192C>G | |
| NM_153765.3:c.30+5542C>G | NP_722449.3:n.30+5542C>G | |
| NM_153766.3:c.-192+6192C>G MANE Select | NP_722450.1:n.-192+6192C>G | |
| NM_153767.4:c.-192+5542C>G | NP_722451.1:n.-192+5542C>G |