dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000005 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Revel Score:
ENST00000354593
0.800
ENST00000336411
0.800
ENST00000544160
0.800
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99768458A>G , CM000669.2:g.99768458A>G | GRCh38 |
| NC_000007.13:g.99366081A>G , CM000669.1:g.99366081A>G | GRCh37 |
| NC_000007.12:g.99204017A>G | NCBI36 |
| NG_008421.1:g.20728T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.566T>C | ENSP00000337915.3:p.Phe189Ser | |
| ENST00000651514.1:c.566T>C MANE Select | ENSP00000498939.1:p.Phe189Ser | |
| ENST00000651783.1:c.107T>C | ENSP00000498924.1:p.Phe36Ser | |
| ENST00000652018.1:c.419T>C | ENSP00000498733.1:p.Phe140Ser | |
| ENST00000336411.6:c.566T>C | ENSP00000337915.2:p.Phe189Ser | |
| ENST00000354593.6:c.116T>C | ENSP00000346607.2:p.Phe39Ser | |
| NM_001202855.2:c.566T>C | NP_001189784.1:p.Phe189Ser | |
| NM_017460.5:c.566T>C | NP_059488.2:p.Phe189Ser | |
| XM_011515841.1:c.566T>C | XP_011514143.1:p.Phe189Ser | |
| XM_011515842.1:c.566T>C | XP_011514144.1:p.Phe189Ser | |
| NM_017460.6:c.566T>C MANE Select | NP_059488.2:p.Phe189Ser | |
| NM_001202855.3:c.566T>C | NP_001189784.1:p.Phe189Ser |