Revel Score:
ENST00000262367 (MANE Select)
0.235
ENST00000543883
0.235
ENST00000382070
0.235
ENST00000323508
0.235
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002553 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00002383 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728976G>A , CM000678.2:g.3728976G>A | GRCh38 |
| NC_000016.9:g.3778977G>A , CM000678.1:g.3778977G>A | GRCh37 |
| NC_000016.8:g.3718978G>A | NCBI36 |
| NG_009873.1:g.156145C>T | |
| NG_009873.2:g.156738C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6071C>T MANE Select | ENSP00000262367.5:p.Ala2024Val | |
| ENST00000262367.9:c.6071C>T | ENSP00000262367.5:p.Ala2024Val | |
| ENST00000382070.7:c.5957C>T | ENSP00000371502.3:p.Ala1986Val | |
| NM_001079846.1:c.5957C>T | NP_001073315.1:p.Ala1986Val | |
| NM_004380.2:c.6071C>T | NP_004371.2:p.Ala2024Val | |
| XM_005255124.3:c.6026C>T | XP_005255181.1:p.Ala2009Val | |
| XM_005255125.3:c.5654C>T | XP_005255182.1:p.Ala1885Val | |
| XM_006720848.2:c.5810C>T | XP_006720911.1:p.Ala1937Val | |
| XM_011522380.1:c.6017C>T | XP_011520682.1:p.Ala2006Val | |
| XM_011522381.1:c.5318C>T | XP_011520683.1:p.Ala1773Val | |
| XM_005255124.4:c.6026C>T | XP_005255181.1:p.Ala2009Val | |
| XM_005255125.4:c.5654C>T | XP_005255182.1:p.Ala1885Val | |
| XM_006720848.3:c.5810C>T | XP_006720911.1:p.Ala1937Val | |
| XM_011522381.2:c.5318C>T | XP_011520683.1:p.Ala1773Val | |
| XM_017022944.1:c.6065C>T | XP_016878433.1:p.Ala2022Val | |
| NM_004380.3:c.6071C>T MANE Select | NP_004371.2:p.Ala2024Val |