Revel Score:
ENST00000262367 (MANE Select)
0.241
ENST00000543883
0.241
ENST00000382070
0.241
ENST00000323508
0.241
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002978 (EAS)
Genomes Max Group AF
0.00006837 (EAS)
Exomes Max Group AF
0.00001627 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728598G>A , CM000678.2:g.3728598G>A | GRCh38 |
| NC_000016.9:g.3778599G>A , CM000678.1:g.3778599G>A | GRCh37 |
| NC_000016.8:g.3718600G>A | NCBI36 |
| NG_009873.1:g.156523C>T | |
| NG_009873.2:g.157116C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6449C>T MANE Select | ENSP00000262367.5:p.Pro2150Leu | |
| ENST00000262367.9:c.6449C>T | ENSP00000262367.5:p.Pro2150Leu | |
| ENST00000382070.7:c.6335C>T | ENSP00000371502.3:p.Pro2112Leu | |
| NM_001079846.1:c.6335C>T | NP_001073315.1:p.Pro2112Leu | |
| NM_004380.2:c.6449C>T | NP_004371.2:p.Pro2150Leu | |
| XM_005255124.3:c.6404C>T | XP_005255181.1:p.Pro2135Leu | |
| XM_005255125.3:c.6032C>T | XP_005255182.1:p.Pro2011Leu | |
| XM_006720848.2:c.6188C>T | XP_006720911.1:p.Pro2063Leu | |
| XM_011522380.1:c.6395C>T | XP_011520682.1:p.Pro2132Leu | |
| XM_011522381.1:c.5696C>T | XP_011520683.1:p.Pro1899Leu | |
| XM_005255124.4:c.6404C>T | XP_005255181.1:p.Pro2135Leu | |
| XM_005255125.4:c.6032C>T | XP_005255182.1:p.Pro2011Leu | |
| XM_006720848.3:c.6188C>T | XP_006720911.1:p.Pro2063Leu | |
| XM_011522381.2:c.5696C>T | XP_011520683.1:p.Pro1899Leu | |
| XM_017022944.1:c.6443C>T | XP_016878433.1:p.Pro2148Leu | |
| NM_004380.3:c.6449C>T MANE Select | NP_004371.2:p.Pro2150Leu |