Revel Score:
ENST00000374736 (MANE Select)
0.360
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76275821 (AMR)
Genomes Max Group AF
0.75519217 (NFE)
Exomes Max Group AF
0.77669122 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104800523T>C , CM000671.2:g.104800523T>C | GRCh38 |
| NC_000009.11:g.107562804T>C , CM000671.1:g.107562804T>C | GRCh37 |
| NC_000009.10:g.106602625T>C | NCBI36 |
| NG_007981.1:g.132633A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.4760A>G MANE Select | ENSP00000363868.3:p.Lys1587Arg | |
| ENST00000678995.1:c.4766A>G | ENSP00000504612.1:p.Lys1589Arg | |
| ENST00000374736.7:c.4760A>G | ENSP00000363868.3:p.Lys1587Arg | |
| NM_005502.3:c.4760A>G | NP_005493.2:p.Lys1587Arg | |
| XM_005251773.1:c.4766A>G | XP_005251830.1:p.Lys1589Arg | |
| XM_005251776.1:c.4586A>G | XP_005251833.1:p.Lys1529Arg | |
| XM_011518339.1:c.4841A>G | XP_011516641.1:p.Lys1614Arg | |
| XM_011518340.1:c.4841A>G | XP_011516642.1:p.Lys1614Arg | |
| XM_011518341.1:c.4835A>G | XP_011516643.1:p.Lys1612Arg | |
| XM_011518342.1:c.4403A>G | XP_011516644.1:p.Lys1468Arg | |
| XM_011518343.1:c.4841A>G | XP_011516645.1:p.Lys1614Arg | |
| XM_005251773.3:c.4766A>G | XP_005251830.1:p.Lys1589Arg | |
| XM_005251776.3:c.4586A>G | XP_005251833.1:p.Lys1529Arg | |
| XM_011518339.3:c.4841A>G | XP_011516641.1:p.Lys1614Arg | |
| XM_011518340.3:c.4841A>G | XP_011516642.1:p.Lys1614Arg | |
| XM_011518341.3:c.4835A>G | XP_011516643.1:p.Lys1612Arg | |
| XM_011518342.3:c.4403A>G | XP_011516644.1:p.Lys1468Arg | |
| XM_017014378.2:c.4841A>G | XP_016869867.1:p.Lys1614Arg | |
| XM_017014379.2:c.4841A>G | XP_016869868.1:p.Lys1614Arg | |
| XM_017014380.2:c.4841A>G | XP_016869869.1:p.Lys1614Arg | |
| XM_017014381.2:c.4841A>G | XP_016869870.1:p.Lys1614Arg | |
| XM_017014382.2:c.4703A>G | XP_016869871.1:p.Lys1568Arg | |
| XR_001746223.1:n.5154A>G | ||
| NM_005502.4:c.4760A>G MANE Select | NP_005493.2:p.Lys1587Arg |