dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2978737 (EAS)
Genomes Max Group AF
0.2978737 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.13201165C>G , CM000670.2:g.13201165C>G | GRCh38 |
| NC_000008.10:g.13058674C>G , CM000670.1:g.13058674C>G | GRCh37 |
| NC_000008.9:g.13103045C>G | NCBI36 |
| NG_015998.1:g.318756G>C | |
| NG_015998.2:g.408441G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276297.9:c.1349-85508G>C MANE Select | ENSP00000276297.4:n.1349-85508G>C | |
| ENST00000276297.8:c.1349-85508G>C | ENSP00000276297.4:n.1349-85508G>C | |
| ENST00000503161.6:c.-238+75530G>C | ENSP00000429537.1:n.-238+75530G>C | |
| ENST00000509922.5:n.90+75530G>C | ||
| ENST00000512044.6:c.139+75097G>C | ENSP00000422595.2:n.139+75097G>C | |
| NM_001316668.1:c.139+75097G>C | NP_001303597.1:n.139+75097G>C | |
| NM_182643.2:c.1349-85508G>C | NP_872584.2:n.1349-85508G>C | |
| XM_005273374.1:c.1349-85508G>C | XP_005273431.1:n.1349-85508G>C | |
| NM_001348081.1:c.1349-85508G>C | NP_001335010.1:n.1349-85508G>C | |
| NM_001348082.1:c.-103-85508G>C | NP_001335011.1:n.-103-85508G>C | |
| NM_001348083.1:c.-186+75530G>C | NP_001335012.1:n.-186+75530G>C | |
| NM_182643.3:c.1349-85508G>C MANE Select | NP_872584.2:n.1349-85508G>C | |
| NM_001316668.2:c.139+75097G>C | NP_001303597.1:n.139+75097G>C | |
| NM_001348081.2:c.1349-85508G>C | NP_001335010.1:n.1349-85508G>C | |
| NM_001348082.2:c.-103-85508G>C | NP_001335011.1:n.-103-85508G>C |