gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39106472 (AFR)
Genomes Max Group AF
0.39106472 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.101517038A>G , CM000668.2:g.101517038A>G | GRCh38 |
| NC_000006.11:g.101964914A>G , CM000668.1:g.101964914A>G | GRCh37 |
| NC_000006.10:g.102071607A>G | NCBI36 |
| NG_009224.2:g.123010A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436862.2:c.116-104911A>G | ENSP00000407140.2:n.116-104911A>G | |
| ENST00000681975.1:c.116-104911A>G | ENSP00000508014.1:n.116-104911A>G | |
| ENST00000682052.1:n.501-104911A>G | ||
| ENST00000682090.1:c.116-104911A>G | ENSP00000508130.1:n.116-104911A>G | |
| ENST00000682115.1:c.116-104911A>G | ENSP00000508069.1:n.116-104911A>G | |
| ENST00000682222.1:c.116-104911A>G | ENSP00000506840.1:n.116-104911A>G | |
| ENST00000682716.1:n.501-104911A>G | ||
| ENST00000682823.1:n.501-104911A>G | ||
| ENST00000683208.1:c.116-104911A>G | ENSP00000508151.1:n.116-104911A>G | |
| ENST00000683215.1:c.116-104911A>G | ENSP00000507424.1:n.116-104911A>G | |
| ENST00000683747.1:n.501-104911A>G | ||
| ENST00000683774.1:n.757-104911A>G | ||
| ENST00000683806.1:c.116-103055A>G | ENSP00000506783.1:n.116-103055A>G | |
| ENST00000683903.1:c.116-104911A>G | ENSP00000507071.1:n.116-104911A>G | |
| ENST00000684027.1:c.116-104911A>G | ENSP00000508056.1:n.116-104911A>G | |
| ENST00000684068.1:c.116-104911A>G | ENSP00000508175.1:n.116-104911A>G | |
| ENST00000684279.1:n.501-104911A>G | ||
| ENST00000684518.1:c.116-104911A>G | ENSP00000507289.1:n.116-104911A>G | |
| ENST00000369134.9:c.116-104911A>G MANE Select | ENSP00000358130.6:n.116-104911A>G | |
| ENST00000369137.8:c.*106+20856A>G | ENSP00000358133.5:n.*106+20856A>G | |
| ENST00000421544.6:c.116-104911A>G | ENSP00000397026.1:n.116-104911A>G | |
| ENST00000358361.7:c.116-104911A>G | ENSP00000351128.3:n.116-104911A>G | |
| ENST00000369138.5:c.116-104911A>G | ENSP00000358134.1:n.116-104911A>G | |
| ENST00000413795.5:c.116-104911A>G | ENSP00000405596.1:n.116-104911A>G | |
| ENST00000421544.5:c.116-104911A>G | ENSP00000397026.1:n.116-104911A>G | |
| NM_001166247.1:c.116-104911A>G | NP_001159719.1:n.116-104911A>G | |
| NM_021956.4:c.116-104911A>G | NP_068775.1:n.116-104911A>G | |
| NM_175768.3:c.116-104911A>G | NP_786944.1:n.116-104911A>G | |
| XM_005266945.2:c.116-104911A>G | XP_005267002.1:n.116-104911A>G | |
| XM_011535777.1:c.116-104911A>G | XP_011534079.1:n.116-104911A>G | |
| XM_011535778.1:c.116-104911A>G | XP_011534080.1:n.116-104911A>G | |
| XM_011535779.1:c.116-104911A>G | XP_011534081.1:n.116-104911A>G | |
| XM_011535780.1:c.116-104911A>G | XP_011534082.1:n.116-104911A>G | |
| XM_011535781.1:c.116-104911A>G | XP_011534083.1:n.116-104911A>G | |
| XM_011535777.3:c.116-104911A>G | XP_011534079.1:n.116-104911A>G | |
| XM_017010781.2:c.116-104911A>G | XP_016866270.1:n.116-104911A>G | |
| XM_017010782.2:c.116-104911A>G | XP_016866271.1:n.116-104911A>G | |
| XM_024446410.1:c.116-104911A>G | XP_024302178.1:n.116-104911A>G | |
| XM_024446411.1:c.116-104911A>G | XP_024302179.1:n.116-104911A>G | |
| XR_002956278.1:n.539-104911A>G | ||
| NM_021956.5:c.116-104911A>G MANE Select | NP_068775.1:n.116-104911A>G |