Revel Score:
ENST00000373190
0.192
ENST00000373187 (MANE Select)
0.192
ENST00000373193
0.192
ENST00000356100
0.192
ENST00000373198
0.192
ENST00000373184
0.192
ENST00000373201
0.192
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
8e-7 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
3e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.42885815A>G , CM000682.2:g.42885815A>G | GRCh38 |
| NC_000020.10:g.41514455A>G , CM000682.1:g.41514455A>G | GRCh37 |
| NC_000020.9:g.40947869A>G | NCBI36 |
| NG_033880.1:g.309103T>C | |
| NG_033880.2:g.309103T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373187.6:c.206T>C MANE Select | ENSP00000362283.1:p.Val69Ala | |
| ENST00000356100.6:c.206T>C | ENSP00000348408.2:p.Val69Ala | |
| ENST00000373184.5:c.206T>C | ENSP00000362280.1:p.Val69Ala | |
| ENST00000373187.5:c.206T>C | ENSP00000362283.1:p.Val69Ala | |
| ENST00000373190.5:c.206T>C | ENSP00000362286.1:p.Val69Ala | |
| ENST00000373193.7:c.206T>C | ENSP00000362289.4:p.Val69Ala | |
| ENST00000373198.8:c.206T>C | ENSP00000362294.4:p.Val69Ala | |
| ENST00000373201.5:c.206T>C | ENSP00000362297.1:p.Val69Ala | |
| ENST00000617474.1:c.*64T>C | ENSP00000484248.1:n.*64T>C | |
| NM_007050.5:c.206T>C | NP_008981.4:p.Val69Ala | |
| NM_133170.3:c.206T>C | NP_573400.3:p.Val69Ala | |
| XM_011528511.1:c.206T>C | XP_011526813.1:p.Val69Ala | |
| XM_011528512.1:c.206T>C | XP_011526814.1:p.Val69Ala | |
| XM_011528513.1:c.206T>C | XP_011526815.1:p.Val69Ala | |
| XM_011528514.1:c.206T>C | XP_011526816.1:p.Val69Ala | |
| XM_011528515.1:c.206T>C | XP_011526817.1:p.Val69Ala | |
| XM_011528516.1:c.206T>C | XP_011526818.1:p.Val69Ala | |
| XM_017027611.1:c.221T>C | XP_016883100.1:p.Val74Ala | |
| XM_017027612.1:c.221T>C | XP_016883101.1:p.Val74Ala | |
| XM_017027613.1:c.221T>C | XP_016883102.1:p.Val74Ala | |
| XM_024451820.1:c.206T>C | XP_024307588.1:p.Val69Ala | |
| NM_007050.6:c.206T>C MANE Select | NP_008981.4:p.Val69Ala | |
| NM_133170.4:c.206T>C | NP_573400.3:p.Val69Ala | |
| NM_001394024.1:c.206T>C | NP_001380953.1:p.Val69Ala | |
| NM_001394025.1:c.206T>C | NP_001380954.1:p.Val69Ala | |
| NM_001394026.1:c.206T>C | NP_001380955.1:p.Val69Ala |