gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43592057 (AMR)
Genomes Max Group AF
0.43654863 (AMR)
Exomes Max Group AF
0.42067976 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.1846899G>C , CM000669.2:g.1846899G>C | GRCh38 |
| NC_000007.13:g.1886535G>C , CM000669.1:g.1886535G>C | GRCh37 |
| NC_000007.12:g.1853061G>C | NCBI36 |
| NG_011518.1:g.391049C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265854.12:c.1999-30671C>G MANE Select | ENSP00000265854.7:n.1999-30671C>G | |
| ENST00000651235.1:c.*4759-30671C>G | ENSP00000498895.1:n.*4759-30671C>G | |
| ENST00000265854.11:c.1999-30671C>G | ENSP00000265854.7:n.1999-30671C>G | |
| ENST00000399654.6:c.1999-30671C>G | ENSP00000382562.2:n.1999-30671C>G | |
| ENST00000402746.5:c.1723-30671C>G | ENSP00000384155.1:n.1723-30671C>G | |
| ENST00000406869.5:c.1999-30671C>G | ENSP00000385334.1:n.1999-30671C>G | |
| ENST00000450235.5:c.652-30671C>G | ENSP00000394886.1:n.652-30671C>G | |
| ENST00000481633.1:n.112+25746C>G | ||
| NM_001013836.1:c.1999-30671C>G | NP_001013858.1:n.1999-30671C>G | |
| NM_001013837.1:c.1999-30671C>G | NP_001013859.1:n.1999-30671C>G | |
| NM_001304523.1:c.1999-30671C>G | NP_001291452.1:n.1999-30671C>G | |
| NM_001304524.1:c.1723-30671C>G | NP_001291453.1:n.1723-30671C>G | |
| NM_001304525.1:c.367-30671C>G | NP_001291454.1:n.367-30671C>G | |
| NM_003550.2:c.1999-30671C>G | NP_003541.2:n.1999-30671C>G | |
| XM_005249877.1:c.1858-30671C>G | XP_005249934.1:n.1858-30671C>G | |
| XM_011515567.1:c.1942-30671C>G | XP_011513869.1:n.1942-30671C>G | |
| XM_011515569.1:c.769-30671C>G | XP_011513871.1:n.769-30671C>G | |
| XM_011515571.1:c.769-30671C>G | XP_011513873.1:n.769-30671C>G | |
| XR_108730.2:n.1188-349G>C | ||
| XR_926990.1:n.1687G>C | ||
| XM_011515569.3:c.1033-30671C>G | XP_011513871.2:n.1033-30671C>G | |
| XM_017012690.1:c.2191-30671C>G | XP_016868179.1:n.2191-30671C>G | |
| XM_017012691.2:c.769-30671C>G | XP_016868180.1:n.769-30671C>G | |
| XM_024446951.1:c.1942-30671C>G | XP_024302719.1:n.1942-30671C>G | |
| XM_024446952.1:c.1942-30671C>G | XP_024302720.1:n.1942-30671C>G | |
| XR_108730.4:n.1999-349G>C | ||
| NM_001013836.2:c.1999-30671C>G MANE Select | NP_001013858.1:n.1999-30671C>G | |
| NM_001013837.2:c.1999-30671C>G | NP_001013859.1:n.1999-30671C>G | |
| NM_001304523.2:c.1999-30671C>G | NP_001291452.1:n.1999-30671C>G | |
| NM_001304524.2:c.1723-30671C>G | NP_001291453.1:n.1723-30671C>G | |
| NM_001304525.2:c.367-30671C>G | NP_001291454.1:n.367-30671C>G | |
| NM_003550.3:c.1999-30671C>G | NP_003541.2:n.1999-30671C>G |