Revel Score:
ENST00000394236 (MANE Select)
0.368
ENST00000407433
0.368
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00370116 (NFE)
Genomes Max Group AF
0.00357977 (NFE)
Exomes Max Group AF
0.00368763 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93879306A>G , CM000665.2:g.93879306A>G | GRCh38 |
| NC_000003.11:g.93598150A>G , CM000665.1:g.93598150A>G | GRCh37 |
| NC_000003.10:g.95080840A>G | NCBI36 |
| NG_009813.1:g.99785T>C , LRG_572:g.99785T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.1501T>C | ENSP00000330021.7:p.Ser501Pro | |
| ENST00000394236.9:c.1501T>C MANE Select | ENSP00000377783.3:p.Ser501Pro | |
| ENST00000407433.6:c.1456T>C | ENSP00000385794.2:p.Ser486Pro | |
| ENST00000647936.1:c.1501T>C | ENSP00000496822.1:p.Ser501Pro | |
| ENST00000648381.1:n.1669T>C | ||
| ENST00000648853.1:c.1459T>C | ENSP00000497262.1:p.Ser487Pro | |
| ENST00000649103.1:c.1600T>C | ENSP00000497962.1:n.1600T>C | |
| ENST00000649585.1:c.444T>C | ENSP00000498163.1:n.444T>C | |
| ENST00000650591.1:c.1597T>C | ENSP00000497376.1:p.Ser533Pro | |
| ENST00000394236.7:c.1501T>C | ENSP00000377783.3:p.Ser501Pro | |
| ENST00000407433.5:c.1108T>C | ENSP00000385794.1:p.Ser370Pro | |
| NM_000313.3:c.1501T>C , LRG_572t1:c.1501T>C | NP_000304.2:p.Ser501Pro | |
| NM_001314077.1:c.1597T>C , LRG_572t2:c.1597T>C | NP_001301006.1:p.Ser533Pro | |
| NM_000313.4:c.1501T>C MANE Select | NP_000304.2:p.Ser501Pro | |
| NM_001314077.2:c.1597T>C | NP_001301006.1:p.Ser533Pro |