ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00155133 (AFR)
Genomes Max Group AF
0.00156269 (AFR)
Exomes Max Group AF
0.00132215 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47447931C>T , CM000673.2:g.47447931C>T | GRCh38 |
| NC_000011.9:g.47469483C>T , CM000673.1:g.47469483C>T | GRCh37 |
| NC_000011.8:g.47426059C>T | NCBI36 |
| NG_008312.1:g.6248G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298854.7:c.412G>A MANE Select | ENSP00000298854.2:p.Val138Ile | |
| ENST00000298854.6:c.412G>A | ENSP00000298854.2:p.Val138Ile | |
| ENST00000352508.7:c.412G>A | ENSP00000298853.3:p.Val138Ile | |
| ENST00000524487.5:c.412G>A | ENSP00000435551.2:p.Val138Ile | |
| ENST00000529341.1:c.412G>A | ENSP00000431732.1:p.Val138Ile | |
| NM_005055.4:c.412G>A | NP_005046.2:p.Val138Ile | |
| NM_032645.4:c.412G>A | NP_116034.2:p.Val138Ile | |
| XM_005253042.2:c.412G>A | XP_005253099.1:p.Val138Ile | |
| XM_005253043.2:c.412G>A | XP_005253100.1:p.Val138Ile | |
| XM_011520252.1:c.412G>A | XP_011518554.1:p.Val138Ile | |
| XM_011520253.1:c.412G>A | XP_011518555.1:p.Val138Ile | |
| XM_005253042.3:c.412G>A | XP_005253099.1:p.Val138Ile | |
| XM_005253043.3:c.412G>A | XP_005253100.1:p.Val138Ile | |
| NM_005055.5:c.412G>A MANE Select | NP_005046.2:p.Val138Ile | |
| NM_032645.5:c.412G>A | NP_116034.2:p.Val138Ile |