Revel Score:
ENST00000224140 (MANE Select)
0.186
ENST00000436441
0.186
ENST00000372169
0.186
ENST00000393220
0.186
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.74837419 (AFR)
Genomes Max Group AF
0.73918719 (AFR)
Exomes Max Group AF
0.75494907 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132264514T>C , CM000671.2:g.132264514T>C | GRCh38 |
| NC_000009.11:g.135139901T>C , CM000671.1:g.135139901T>C | GRCh37 |
| NC_000009.10:g.134129722T>C | NCBI36 |
| NG_007946.1:g.95472A>G , LRG_268:g.95472A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224140.6:c.7759A>G MANE Select | ENSP00000224140.5:p.Ile2587Val | |
| ENST00000224140.5:c.7759A>G | ENSP00000224140.5:p.Ile2587Val | |
| ENST00000436441.5:c.2572A>G | ENSP00000409143.1:p.Ile858Val | |
| ENST00000477049.1:n.909A>G | ||
| NM_015046.5:c.7759A>G , LRG_268t1:c.7759A>G | NP_055861.3:p.Ile2587Val | |
| XM_005272171.1:c.7846A>G | XP_005272228.1:p.Ile2616Val | |
| XM_005272172.1:c.7846A>G | XP_005272229.1:p.Ile2616Val | |
| XM_005272173.1:c.7846A>G | XP_005272230.1:p.Ile2616Val | |
| XM_011518404.1:c.7846A>G | XP_011516706.1:p.Ile2616Val | |
| XM_011518405.1:c.7846A>G | XP_011516707.1:p.Ile2616Val | |
| XR_929739.1:n.7675A>G | ||
| NM_001351527.1:c.7759A>G | NP_001338456.1:p.Ile2587Val | |
| NM_001351528.1:c.7846A>G | NP_001338457.1:p.Ile2616Val | |
| NM_015046.6:c.7759A>G | NP_055861.3:p.Ile2587Val | |
| XM_005272172.3:c.7846A>G | XP_005272229.1:p.Ile2616Val | |
| XM_005272173.3:c.7846A>G | XP_005272230.1:p.Ile2616Val | |
| XM_011518404.3:c.7846A>G | XP_011516706.1:p.Ile2616Val | |
| XM_011518405.3:c.7846A>G | XP_011516707.1:p.Ile2616Val | |
| XM_017014496.1:c.2299A>G | XP_016869985.1:p.Ile767Val | |
| XR_001746251.1:n.7314A>G | ||
| XR_929739.2:n.7675A>G | ||
| NM_015046.7:c.7759A>G MANE Select | NP_055861.3:p.Ile2587Val | |
| NM_001351528.2:c.7846A>G | NP_001338457.1:p.Ile2616Val | |
| NM_001351527.2:c.7759A>G | NP_001338456.1:p.Ile2587Val |