gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00722427 (AFR)
Genomes Max Group AF
0.00661309 (AFR)
Exomes Max Group AF
0.00751254 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85541658G>T , CM000664.2:g.85541658G>T | GRCh38 |
| NC_000002.11:g.85768781G>T , CM000664.1:g.85768781G>T | GRCh37 |
| NC_000002.10:g.85622292G>T | NCBI36 |
| NG_029183.1:g.7681G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306434.8:c.318G>T MANE Select | ENSP00000303147.3:p.Val106= | |
| ENST00000306434.7:c.318G>T | ENSP00000303147.3:p.Val106= | |
| ENST00000409017.1:c.129G>T | ENSP00000386353.1:p.Val43= | |
| ENST00000481412.5:n.296G>T | ||
| ENST00000490878.1:n.177G>T | ||
| NM_005911.5:c.318G>T | NP_005902.1:p.Val106= | |
| NM_005911.6:c.318G>T MANE Select | NP_005902.1:p.Val106= |