Revel Score:
ENST00000368148
0.249
ENST00000368147
0.249
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001144 (NFE)
Exomes Max Group AF
0.00001214 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158685235C>A , CM000663.2:g.158685235C>A | GRCh38 |
| NC_000001.10:g.158655025C>A , CM000663.1:g.158655025C>A | GRCh37 |
| NC_000001.9:g.156921649C>A | NCBI36 |
| NG_011474.1:g.6482G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.137G>T MANE Select | ENSP00000495214.1:p.Gly46Val | |
| ENST00000368147.8:c.137G>T | ENSP00000357129.4:p.Gly46Val | |
| ENST00000467387.1:c.132+5G>T | ENSP00000476485.1:n.132+5G>T | |
| ENST00000614909.4:c.137G>T | ENSP00000482595.1:p.Gly46Val | |
| NM_003126.2:c.137G>T | NP_003117.2:p.Gly46Val | |
| XM_011509916.1:c.137G>T | XP_011508218.1:p.Gly46Val | |
| XM_011509917.1:c.137G>T | XP_011508219.1:p.Gly46Val | |
| XM_011509918.1:c.137G>T | XP_011508220.1:p.Gly46Val | |
| XM_011509919.1:c.137G>T | XP_011508221.1:p.Gly46Val | |
| XR_921911.1:n.250G>T | ||
| XR_921912.1:n.255G>T | ||
| NM_003126.3:c.137G>T | NP_003117.2:p.Gly46Val | |
| XM_011509916.2:c.137G>T | XP_011508218.1:p.Gly46Val | |
| XM_011509917.3:c.137G>T | XP_011508219.1:p.Gly46Val | |
| XM_011509918.3:c.137G>T | XP_011508220.1:p.Gly46Val | |
| XM_011509919.3:c.137G>T | XP_011508221.1:p.Gly46Val | |
| XR_921911.3:n.263G>T | ||
| XR_921912.2:n.265G>T | ||
| NM_003126.4:c.137G>T MANE Select | NP_003117.2:p.Gly46Val |