gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99260377 (NFE)
Genomes Max Group AF
0.99260312 (NFE)
Exomes Max Group AF
0.4355024 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13561795T>C , CM000674.2:g.13561795T>C | GRCh38 |
| NC_000012.11:g.13714729T>C , CM000674.1:g.13714729T>C | GRCh37 |
| NC_000012.10:g.13605996T>C | NCBI36 |
| NG_031854.1:g.423294A>G | |
| NG_031854.2:g.425218A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.*988A>G MANE Select | ENSP00000477455.1:n.*988A>G | |
| ENST00000637214.1:c.69+46808A>G | ENSP00000489997.1:n.69+46808A>G | |
| ENST00000609686.3:c.*988A>G | ENSP00000477455.1:n.*988A>G | |
| NM_000834.3:c.*988A>G | NP_000825.2:n.*988A>G | |
| XM_005253351.2:c.*988A>G | XP_005253408.1:n.*988A>G | |
| XM_011520628.1:c.*988A>G | XP_011518930.1:n.*988A>G | |
| XM_011520629.1:c.*988A>G | XP_011518931.1:n.*988A>G | |
| XM_011520630.1:c.*988A>G | XP_011518932.1:n.*988A>G | |
| NM_000834.4:c.*988A>G | NP_000825.2:n.*988A>G | |
| XM_005253351.3:c.*988A>G | XP_005253408.1:n.*988A>G | |
| XM_011520628.2:c.*988A>G | XP_011518930.1:n.*988A>G | |
| XM_011520629.2:c.*988A>G | XP_011518931.1:n.*988A>G | |
| XM_017019219.2:c.*988A>G | XP_016874708.1:n.*988A>G | |
| NM_000834.5:c.*988A>G MANE Select | NP_000825.2:n.*988A>G |