dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Revel Score:
ENST00000522368
0.406
ENST00000251810 (MANE Select)
0.881
ENST00000535248
0.881
ENST00000395912
0.881
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102218846T>C , CM000670.2:g.102218846T>C | GRCh38 |
| NC_000008.10:g.103231074T>C , CM000670.1:g.103231074T>C | GRCh37 |
| NC_000008.9:g.103300250T>C | NCBI36 |
| NG_016617.1:g.25273A>G , LRG_788:g.25273A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.652A>G MANE Select | ENSP00000251810.3:p.Thr218Ala | |
| ENST00000251810.7:c.652A>G | ENSP00000251810.3:p.Thr218Ala | |
| ENST00000395912.6:c.496A>G | ENSP00000379248.2:p.Thr166Ala | |
| ENST00000519125.1:n.170A>G | ||
| ENST00000519317.5:c.49-4688A>G | ENSP00000430641.1:n.49-4688A>G | |
| ENST00000519962.5:c.49-10561A>G | ENSP00000429140.1:n.49-10561A>G | |
| ENST00000522368.5:c.821A>G | ||
| ENST00000522394.1:c.123-5957A>G | ENSP00000429578.1:n.123-5957A>G | |
| ENST00000621845.1:c.490A>G | ENSP00000484318.1:p.Thr164Ala | |
| NM_001172477.1:c.868A>G , LRG_788t1:c.868A>G | NP_001165948.1:p.Thr290Ala | |
| NM_001172478.1:c.496A>G | NP_001165949.1:p.Thr166Ala | |
| NM_015713.4:c.652A>G , LRG_788t2:c.652A>G | NP_056528.2:p.Thr218Ala | |
| NM_001172478.2:c.496A>G | NP_001165949.1:p.Thr166Ala | |
| NM_015713.5:c.652A>G MANE Select | NP_056528.2:p.Thr218Ala |