Revel Score:
ENST00000543092
0.004
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013807 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.0001433 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113932382G>T , CM000673.2:g.113932382G>T | GRCh38 |
| NC_000011.9:g.113803104G>T , CM000673.1:g.113803104G>T | GRCh37 |
| NC_000011.8:g.113308314G>T | NCBI36 |
| NG_011483.1:g.32516G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260191.8:c.462G>T MANE Select | ENSP00000260191.2:p.Ala154= | |
| ENST00000260191.7:c.462G>T | ENSP00000260191.2:p.Ala154= | |
| ENST00000260191.6:c.462G>T | ENSP00000260191.2:p.Ala154= | |
| ENST00000537778.5:c.429G>T | ENSP00000443118.1:p.Ala143= | |
| ENST00000543092.1:c.248G>T | ||
| NM_006028.4:c.462G>T | NP_006019.1:p.Ala154= | |
| XM_011543063.1:c.429G>T | XP_011541365.1:p.Ala143= | |
| XM_011543064.1:c.261G>T | XP_011541366.1:p.Ala87= | |
| XM_011543065.1:c.255G>T | XP_011541367.1:p.Ala85= | |
| XM_011543066.1:c.429G>T | XP_011541368.1:p.Ala143= | |
| NM_001363563.1:c.429G>T | NP_001350492.1:p.Ala143= | |
| XM_017018552.2:c.255G>T | XP_016874041.1:p.Ala85= | |
| XM_024448767.1:c.168G>T | XP_024304535.1:p.Ala56= | |
| XR_001748034.2:n.713G>T | ||
| NM_001363563.2:c.429G>T | NP_001350492.1:p.Ala143= | |
| NM_006028.5:c.462G>T MANE Select | NP_006019.1:p.Ala154= |