gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15493579 (AFR)
Genomes Max Group AF
0.15493579 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30731607G>C , CM000668.2:g.30731607G>C | GRCh38 |
| NC_000006.11:g.30699384G>C , CM000668.1:g.30699384G>C | GRCh37 |
| NC_000006.10:g.30807363G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376389.8:c.724-507C>G MANE Select | ENSP00000365569.3:n.724-507C>G | |
| ENST00000376389.7:c.724-507C>G | ENSP00000365569.3:n.724-507C>G | |
| ENST00000413165.5:c.535-507C>G | ENSP00000395333.1:n.535-507C>G | |
| ENST00000438162.5:c.724-507C>G | ENSP00000400615.1:n.724-507C>G | |
| ENST00000476729.5:n.453-507C>G | ||
| ENST00000487376.5:n.425-507C>G | ||
| NM_005803.2:c.724-507C>G | NP_005794.1:n.724-507C>G | |
| XM_005248780.3:c.724-507C>G | XP_005248837.1:n.724-507C>G | |
| XM_005248781.3:c.580-507C>G | XP_005248838.1:n.580-507C>G | |
| XM_006714947.2:c.565-507C>G | XP_006715010.1:n.565-507C>G | |
| NM_001318875.1:c.580-507C>G | NP_001305804.1:n.580-507C>G | |
| NM_005803.3:c.724-507C>G | NP_005794.1:n.724-507C>G | |
| XM_006714947.3:c.565-507C>G | XP_006715010.1:n.565-507C>G | |
| XM_017010157.1:c.712-507C>G | XP_016865646.1:n.712-507C>G | |
| XM_017010158.1:c.613-507C>G | XP_016865647.1:n.613-507C>G | |
| NM_005803.4:c.724-507C>G MANE Select | NP_005794.1:n.724-507C>G | |
| NM_001318875.2:c.580-507C>G | NP_001305804.1:n.580-507C>G |