Revel Score:
ENST00000343257 (MANE Select)
0.506
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00570687 (MID)
Genomes Max Group AF
0.00012868 (AMR)
Exomes Max Group AF
0.00584546 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351862A>T , CM000669.2:g.143351862A>T | GRCh38 |
| NC_000007.13:g.143048955A>T , CM000669.1:g.143048955A>T | GRCh37 |
| NC_000007.12:g.142759077A>T | NCBI36 |
| NG_009815.1:g.40737A>T | |
| NG_009815.2:g.40737A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2864A>T | ENSP00000498052.2:p.Glu955Val | |
| ENST00000343257.7:c.2864A>T MANE Select | ENSP00000339867.2:p.Glu955Val | |
| ENST00000343257.6:c.2864A>T | ENSP00000339867.2:p.Glu955Val | |
| NM_000083.2:c.2864A>T | NP_000074.2:p.Glu955Val | |
| NR_046453.1:n.2804A>T | ||
| XM_011515781.1:c.2888A>T | XP_011514083.1:p.Glu963Val | |
| XM_011515782.1:c.1610A>T | XP_011514084.1:p.Glu537Val | |
| XM_011515782.2:c.1610A>T | XP_011514084.1:p.Glu537Val | |
| XM_017011739.1:c.2438A>T | XP_016867228.1:p.Glu813Val | |
| XM_017011740.1:c.2414A>T | XP_016867229.1:p.Glu805Val | |
| NM_000083.3:c.2864A>T MANE Select | NP_000074.3:p.Glu955Val | |
| NR_046453.2:n.2819A>T |