Revel Score:
ENST00000368148
0.259
ENST00000368147
0.259
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00019869 (AFR)
Genomes Max Group AF
0.00022239 (AFR)
Exomes Max Group AF
0.00009754 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158685229T>C , CM000663.2:g.158685229T>C | GRCh38 |
| NC_000001.10:g.158655019T>C , CM000663.1:g.158655019T>C | GRCh37 |
| NC_000001.9:g.156921643T>C | NCBI36 |
| NG_011474.1:g.6488A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.143A>G MANE Select | ENSP00000495214.1:p.Lys48Arg | |
| ENST00000368147.8:c.143A>G | ENSP00000357129.4:p.Lys48Arg | |
| ENST00000467387.1:c.132+11A>G | ENSP00000476485.1:n.132+11A>G | |
| ENST00000614909.4:c.143A>G | ENSP00000482595.1:p.Lys48Arg | |
| NM_003126.2:c.143A>G | NP_003117.2:p.Lys48Arg | |
| XM_011509916.1:c.143A>G | XP_011508218.1:p.Lys48Arg | |
| XM_011509917.1:c.143A>G | XP_011508219.1:p.Lys48Arg | |
| XM_011509918.1:c.143A>G | XP_011508220.1:p.Lys48Arg | |
| XM_011509919.1:c.143A>G | XP_011508221.1:p.Lys48Arg | |
| XR_921911.1:n.256A>G | ||
| XR_921912.1:n.261A>G | ||
| NM_003126.3:c.143A>G | NP_003117.2:p.Lys48Arg | |
| XM_011509916.2:c.143A>G | XP_011508218.1:p.Lys48Arg | |
| XM_011509917.3:c.143A>G | XP_011508219.1:p.Lys48Arg | |
| XM_011509918.3:c.143A>G | XP_011508220.1:p.Lys48Arg | |
| XM_011509919.3:c.143A>G | XP_011508221.1:p.Lys48Arg | |
| XR_921911.3:n.269A>G | ||
| XR_921912.2:n.271A>G | ||
| NM_003126.4:c.143A>G MANE Select | NP_003117.2:p.Lys48Arg |