gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38957103 (NFE)
Genomes Max Group AF
0.39230544 (NFE)
Exomes Max Group AF
0.38917974 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96231492G>A , CM000670.2:g.96231492G>A | GRCh38 |
| NC_000008.10:g.97243720G>A , CM000670.1:g.97243720G>A | GRCh37 |
| NC_000008.9:g.97312896G>A | NCBI36 |
| NG_008237.1:g.9143C>T | |
| NG_008237.2:g.9041C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287022.10:c.258+282C>T MANE Select | ENSP00000287022.5:n.258+282C>T | |
| ENST00000287022.9:c.258+282C>T | ENSP00000287022.5:n.258+282C>T | |
| ENST00000517523.1:c.*21+40C>T | ENSP00000429787.1:n.*21+40C>T | |
| ENST00000517603.5:c.*291+282C>T | ENSP00000430672.1:n.*291+282C>T | |
| ENST00000518406.5:c.282C>T | ENSP00000430494.1:p.His94= | |
| ENST00000518876.1:n.3771+282C>T | ||
| ENST00000519322.1:n.555C>T | ||
| ENST00000521036.5:c.282C>T | ENSP00000427862.1:p.His94= | |
| ENST00000521948.1:n.927+282C>T | ||
| ENST00000523920.1:c.282C>T | ENSP00000430560.1:p.His94= | |
| NM_001199975.2:c.162+282C>T | NP_001186904.1:n.162+282C>T | |
| NM_001254752.1:c.282C>T | NP_001241681.1:p.His94= | |
| NM_006294.4:c.258+282C>T | NP_006285.1:n.258+282C>T | |
| NR_045639.1:n.386C>T | ||
| NM_001199975.3:c.162+282C>T | NP_001186904.1:n.162+282C>T | |
| NM_001254752.2:c.282C>T | NP_001241681.1:p.His94= | |
| NM_006294.5:c.258+282C>T MANE Select | NP_006285.1:n.258+282C>T | |
| NR_045639.2:n.297C>T |