Revel Score:
ENST00000368148
0.277
ENST00000368147
0.277
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004368 (AFR)
Genomes Max Group AF
0.00004726 (AFR)
Exomes Max Group AF
0.00000991 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158678432A>G , CM000663.2:g.158678432A>G | GRCh38 |
| NC_000001.10:g.158648222A>G , CM000663.1:g.158648222A>G | GRCh37 |
| NC_000001.9:g.156914846A>G | NCBI36 |
| NG_011474.1:g.13285T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.781T>C MANE Select | ENSP00000495214.1:p.Ser261Pro | |
| ENST00000368147.8:c.781T>C | ENSP00000357129.4:p.Ser261Pro | |
| ENST00000467387.1:c.235T>C | ENSP00000476485.1:p.Ser79Pro | |
| ENST00000614909.4:c.781T>C | ENSP00000482595.1:p.Ser261Pro | |
| NM_003126.2:c.781T>C | NP_003117.2:p.Ser261Pro | |
| XM_011509916.1:c.781T>C | XP_011508218.1:p.Ser261Pro | |
| XM_011509917.1:c.781T>C | XP_011508219.1:p.Ser261Pro | |
| XM_011509918.1:c.781T>C | XP_011508220.1:p.Ser261Pro | |
| XM_011509919.1:c.781T>C | XP_011508221.1:p.Ser261Pro | |
| XR_921911.1:n.894T>C | ||
| XR_921912.1:n.899T>C | ||
| NM_003126.3:c.781T>C | NP_003117.2:p.Ser261Pro | |
| XM_011509916.2:c.781T>C | XP_011508218.1:p.Ser261Pro | |
| XM_011509917.3:c.781T>C | XP_011508219.1:p.Ser261Pro | |
| XM_011509918.3:c.781T>C | XP_011508220.1:p.Ser261Pro | |
| XM_011509919.3:c.781T>C | XP_011508221.1:p.Ser261Pro | |
| XR_921911.3:n.907T>C | ||
| XR_921912.2:n.909T>C | ||
| NM_003126.4:c.781T>C MANE Select | NP_003117.2:p.Ser261Pro |