Revel Score:
ENST00000368148
0.622
ENST00000368147
0.622
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00054243 (AFR)
Genomes Max Group AF
0.00051847 (AFR)
Exomes Max Group AF
0.0004442 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158680641A>G , CM000663.2:g.158680641A>G | GRCh38 |
| NC_000001.10:g.158650431A>G , CM000663.1:g.158650431A>G | GRCh37 |
| NC_000001.9:g.156917055A>G | NCBI36 |
| NG_011474.1:g.11076T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.620T>C MANE Select | ENSP00000495214.1:p.Leu207Pro | |
| ENST00000368147.8:c.620T>C | ENSP00000357129.4:p.Leu207Pro | |
| ENST00000467387.1:c.133-2107T>C | ENSP00000476485.1:n.133-2107T>C | |
| ENST00000614909.4:c.620T>C | ENSP00000482595.1:p.Leu207Pro | |
| NM_003126.2:c.620T>C | NP_003117.2:p.Leu207Pro | |
| XM_011509916.1:c.620T>C | XP_011508218.1:p.Leu207Pro | |
| XM_011509917.1:c.620T>C | XP_011508219.1:p.Leu207Pro | |
| XM_011509918.1:c.620T>C | XP_011508220.1:p.Leu207Pro | |
| XM_011509919.1:c.620T>C | XP_011508221.1:p.Leu207Pro | |
| XR_921911.1:n.733T>C | ||
| XR_921912.1:n.738T>C | ||
| NM_003126.3:c.620T>C | NP_003117.2:p.Leu207Pro | |
| XM_011509916.2:c.620T>C | XP_011508218.1:p.Leu207Pro | |
| XM_011509917.3:c.620T>C | XP_011508219.1:p.Leu207Pro | |
| XM_011509918.3:c.620T>C | XP_011508220.1:p.Leu207Pro | |
| XM_011509919.3:c.620T>C | XP_011508221.1:p.Leu207Pro | |
| XR_921911.3:n.746T>C | ||
| XR_921912.2:n.748T>C | ||
| NM_003126.4:c.620T>C MANE Select | NP_003117.2:p.Leu207Pro |