gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0004311 (NFE)
Genomes Max Group AF
0.00043111 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102877210G>A , CM000663.2:g.102877210G>A | GRCh38 |
| NC_000001.10:g.103342766G>A , CM000663.1:g.103342766G>A | GRCh37 |
| NC_000001.9:g.103115354G>A | NCBI36 |
| NG_008033.1:g.236287C>T | |
| NG_008033.2:g.236287C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.*809C>T MANE Select | ENSP00000359114.3:n.*809C>T | |
| ENST00000353414.8:c.*809C>T | ENSP00000302551.6:n.*809C>T | |
| ENST00000358392.6:c.*809C>T | ENSP00000351163.2:n.*809C>T | |
| ENST00000370096.7:c.*809C>T | ENSP00000359114.3:n.*809C>T | |
| NM_001190709.1:c.*809C>T | NP_001177638.1:n.*809C>T | |
| NM_001854.3:c.*809C>T | NP_001845.3:n.*809C>T | |
| NM_080629.2:c.*809C>T | NP_542196.2:n.*809C>T | |
| NM_080630.3:c.*809C>T | NP_542197.3:n.*809C>T | |
| XM_011540720.1:c.*809C>T | XP_011539022.1:n.*809C>T | |
| XM_011540721.1:c.*809C>T | XP_011539023.1:n.*809C>T | |
| NR_134980.1:n.6564C>T | ||
| XM_017000334.1:c.*809C>T | XP_016855823.1:n.*809C>T | |
| NM_001854.4:c.*809C>T MANE Select | NP_001845.3:n.*809C>T | |
| NM_080630.4:c.*809C>T | NP_542197.3:n.*809C>T | |
| NR_134980.2:n.6590C>T | ||
| NM_001190709.2:c.*809C>T | NP_001177638.1:n.*809C>T | |
| NM_080629.3:c.*809C>T | NP_542196.2:n.*809C>T |