Revel Score:
ENST00000262367 (MANE Select)
0.427
ENST00000543883
0.427
ENST00000382070
0.427
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011728 (NFE)
Genomes Max Group AF
0.00004765 (NFE)
Exomes Max Group AF
0.00011895 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3780823G>A , CM000678.2:g.3780823G>A | GRCh38 |
| NC_000016.9:g.3830824G>A , CM000678.1:g.3830824G>A | GRCh37 |
| NC_000016.8:g.3770825G>A | NCBI36 |
| NG_009873.1:g.104298C>T | |
| NG_009873.2:g.104891C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.1732C>T MANE Select | ENSP00000262367.5:p.Pro578Ser | |
| ENST00000262367.9:c.1732C>T | ENSP00000262367.5:p.Pro578Ser | |
| ENST00000382070.7:c.1618C>T | ENSP00000371502.3:p.Pro540Ser | |
| ENST00000570939.2:c.337C>T | ENSP00000461002.2:p.Pro113Ser | |
| ENST00000572134.1:c.45C>T | ||
| NM_001079846.1:c.1618C>T | NP_001073315.1:p.Pro540Ser | |
| NM_004380.2:c.1732C>T | NP_004371.2:p.Pro578Ser | |
| XM_005255124.3:c.1732C>T | XP_005255181.1:p.Pro578Ser | |
| XM_005255125.3:c.1732C>T | XP_005255182.1:p.Pro578Ser | |
| XM_006720848.2:c.1732C>T | XP_006720911.1:p.Pro578Ser | |
| XM_011522380.1:c.1678C>T | XP_011520682.1:p.Pro560Ser | |
| XM_011522381.1:c.979C>T | XP_011520683.1:p.Pro327Ser | |
| XM_011522382.1:c.1732C>T | XP_011520684.1:p.Pro578Ser | |
| XM_005255124.4:c.1732C>T | XP_005255181.1:p.Pro578Ser | |
| XM_005255125.4:c.1732C>T | XP_005255182.1:p.Pro578Ser | |
| XM_006720848.3:c.1732C>T | XP_006720911.1:p.Pro578Ser | |
| XM_011522381.2:c.979C>T | XP_011520683.1:p.Pro327Ser | |
| XM_011522382.3:c.1732C>T | XP_011520684.1:p.Pro578Ser | |
| XM_017022944.1:c.1732C>T | XP_016878433.1:p.Pro578Ser | |
| NM_004380.3:c.1732C>T MANE Select | NP_004371.2:p.Pro578Ser |