Revel Score:
ENST00000334528
0.056
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06792205 (MID)
Genomes Max Group AF
0.05355108 (NFE)
Exomes Max Group AF
0.06665876 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.32968984G>A , CM000677.2:g.32968984G>A | GRCh38 |
| NC_000015.9:g.33261185G>A , CM000677.1:g.33261185G>A | GRCh37 |
| NC_000015.8:g.31048477G>A | NCBI36 |
| NG_042863.1:g.230750C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616417.5:c.2717C>T MANE Select | ENSP00000479134.1:p.Pro906Leu | |
| ENST00000672206.1:c.983C>T | ENSP00000500647.1:p.Pro328Leu | |
| ENST00000334528.13:c.2048C>T | ENSP00000333950.9:p.Pro683Leu | |
| ENST00000559047.5:c.2717C>T | ENSP00000454047.1:p.Pro906Leu | |
| ENST00000561249.5:c.2423C>T | ENSP00000453443.1:p.Pro808Leu | |
| ENST00000616417.4:c.2717C>T | ENSP00000479134.1:p.Pro906Leu | |
| NM_001103184.3:c.2048C>T | NP_001096654.1:p.Pro683Leu | |
| NM_001277313.1:c.2717C>T | NP_001264242.1:p.Pro906Leu | |
| XM_011521504.1:c.2717C>T | XP_011519806.1:p.Pro906Leu | |
| XM_011521505.1:c.2717C>T | XP_011519807.1:p.Pro906Leu | |
| XM_011521506.1:c.2423C>T | XP_011519808.1:p.Pro808Leu | |
| XM_011521507.1:c.2717C>T | XP_011519809.1:p.Pro906Leu | |
| XM_011521508.1:c.2717C>T | XP_011519810.1:p.Pro906Leu | |
| XM_011521509.1:c.1067C>T | XP_011519811.1:p.Pro356Leu | |
| XM_011521510.1:c.974C>T | XP_011519812.1:p.Pro325Leu | |
| XM_011521511.1:c.941C>T | XP_011519813.1:p.Pro314Leu | |
| XM_011521512.1:c.527C>T | XP_011519814.1:p.Pro176Leu | |
| XM_011521504.3:c.2717C>T | XP_011519806.1:p.Pro906Leu | |
| XM_011521505.2:c.2717C>T | XP_011519807.1:p.Pro906Leu | |
| XM_011521506.3:c.2423C>T | XP_011519808.1:p.Pro808Leu | |
| XM_011521507.2:c.2717C>T | XP_011519809.1:p.Pro906Leu | |
| XM_011521509.3:c.1067C>T | XP_011519811.1:p.Pro356Leu | |
| XM_011521511.3:c.941C>T | XP_011519813.1:p.Pro314Leu | |
| XM_017022130.2:c.2717C>T | XP_016877619.1:p.Pro906Leu | |
| XM_017022131.1:c.2717C>T | XP_016877620.1:p.Pro906Leu | |
| XM_017022132.2:c.983C>T | XP_016877621.1:p.Pro328Leu | |
| XM_017022133.2:c.887C>T | XP_016877622.1:p.Pro296Leu | |
| XM_017022134.2:c.884C>T | XP_016877623.1:p.Pro295Leu | |
| XM_017022135.2:c.707C>T | XP_016877624.1:p.Pro236Leu | |
| NM_001103184.4:c.2048C>T | NP_001096654.1:p.Pro683Leu | |
| NM_001277313.2:c.2717C>T MANE Select | NP_001264242.1:p.Pro906Leu |