Revel Score:
ENST00000275838
0.129
ENST00000377867
0.129
ENST00000422024
0.129
ENST00000434669
0.129
ENST00000420175 (MANE Select)
0.129
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00239335 (NFE)
Genomes Max Group AF
0.00273109 (NFE)
Exomes Max Group AF
0.00235449 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151181424C>G , CM000669.2:g.151181424C>G | GRCh38 |
| NC_000007.13:g.150878511C>G , CM000669.1:g.150878511C>G | GRCh37 |
| NC_000007.12:g.150509444C>G | NCBI36 |
| NG_017016.1:g.11409G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420175.3:c.619G>C MANE Select | ENSP00000391137.2:p.Val207Leu | |
| ENST00000275838.5:c.619G>C | ENSP00000275838.1:p.Val207Leu | |
| ENST00000377867.7:c.574G>C | ENSP00000367098.3:p.Val192Leu | |
| ENST00000420175.2:c.619G>C | ENSP00000391137.2:p.Val207Leu | |
| NM_001142459.1:c.619G>C | NP_001135931.2:p.Val207Leu | |
| NM_001142460.1:c.619G>C | NP_001135932.2:p.Val207Leu | |
| NM_080871.3:c.574G>C | NP_543147.2:p.Val192Leu | |
| XM_005249949.3:c.754G>C | XP_005250006.1:p.Val252Leu | |
| NM_001142459.2:c.619G>C MANE Select | NP_001135931.2:p.Val207Leu | |
| NM_080871.4:c.574G>C | NP_543147.2:p.Val192Leu |