Revel Score:
ENST00000315251 (MANE Select)
0.107
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000604 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00006234 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53821737T>C , CM000665.2:g.53821737T>C | GRCh38 |
| NC_000003.11:g.53855764T>C , CM000665.1:g.53855764T>C | GRCh37 |
| NC_000003.10:g.53830804T>C | NCBI36 |
| NG_028042.1:g.29657A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315251.11:c.895A>G MANE Select | ENSP00000319851.5:p.Ile299Val | |
| ENST00000315251.10:c.895A>G | ENSP00000319851.5:p.Ile299Val | |
| NM_018397.4:c.895A>G | NP_060867.2:p.Ile299Val | |
| XM_006713250.2:c.898A>G | XP_006713313.1:p.Ile300Val | |
| XM_006713251.2:c.898A>G | XP_006713314.1:p.Ile300Val | |
| XM_006713252.2:c.898A>G | XP_006713315.1:p.Ile300Val | |
| XM_011533938.1:c.898A>G | XP_011532240.1:p.Ile300Val | |
| XM_011533939.1:c.898A>G | XP_011532241.1:p.Ile300Val | |
| XM_006713250.4:c.898A>G | XP_006713313.1:p.Ile300Val | |
| XM_006713251.4:c.898A>G | XP_006713314.1:p.Ile300Val | |
| XM_006713252.4:c.898A>G | XP_006713315.1:p.Ile300Val | |
| XM_011533938.3:c.898A>G | XP_011532240.1:p.Ile300Val | |
| XM_011533939.3:c.898A>G | XP_011532241.1:p.Ile300Val | |
| XM_017006797.2:c.895A>G | XP_016862286.1:p.Ile299Val | |
| XM_017006798.2:c.895A>G | XP_016862287.1:p.Ile299Val | |
| XM_017006799.2:c.895A>G | XP_016862288.1:p.Ile299Val | |
| XR_001740199.2:n.1410A>G | ||
| XR_002959545.1:n.1410A>G | ||
| NM_018397.5:c.895A>G MANE Select | NP_060867.2:p.Ile299Val |