ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00084845 (NFE)
Genomes Max Group AF
0.00058546 (NFE)
Exomes Max Group AF
0.00085638 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.127611188G>A , CM000669.2:g.127611188G>A | GRCh38 |
| NC_000007.13:g.127251242G>A , CM000669.1:g.127251242G>A | GRCh37 |
| NC_000007.12:g.127038478G>A | NCBI36 |
| NG_012848.1:g.9539C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639438.3:c.932C>T MANE Select | ENSP00000491782.1:p.Pro311Leu | |
| ENST00000338516.7:c.914-203C>T | ENSP00000344297.4:n.914-203C>T | |
| ENST00000341640.6:c.908C>T | ENSP00000339906.2:p.Pro303Leu | |
| ENST00000378740.6:c.890-203C>T | ENSP00000368014.3:n.890-203C>T | |
| ENST00000463946.5:c.902C>T | ENSP00000451923.1:p.Pro301Leu | |
| ENST00000483494.5:c.*282-203C>T | ENSP00000473846.1:n.*282-203C>T | |
| NM_006193.2:c.908C>T | NP_006184.2:p.Pro303Leu | |
| XM_011516276.1:c.932C>T | XP_011514578.1:p.Pro311Leu | |
| NM_001366110.1:c.932C>T MANE Select | NP_001353039.1:p.Pro311Leu | |
| NM_001366111.1:c.914-203C>T | NP_001353040.1:n.914-203C>T |