Revel Score:
ENST00000376751
0.104
ENST00000244360 (MANE Select)
0.104
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27089902 (AFR)
Genomes Max Group AF
0.26986706 (AFR)
Exomes Max Group AF
0.2692882 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30073232A>G , CM000668.2:g.30073232A>G | GRCh38 |
| NC_000006.11:g.30041009A>G , CM000668.1:g.30041009A>G | GRCh37 |
| NC_000006.10:g.30148988A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244360.8:c.403T>C MANE Select | ENSP00000244360.7:p.Ser135Pro | |
| ENST00000244360.7:c.403T>C | ENSP00000244360.7:p.Ser135Pro | |
| ENST00000376751.8:c.403T>C | ENSP00000365942.4:p.Ser135Pro | |
| ENST00000244360.6:c.607T>C | ENSP00000244360.6:p.Ser203Pro | |
| ENST00000376751.7:c.607T>C | ENSP00000365942.3:p.Ser203Pro | |
| NM_025236.3:c.607T>C | NP_079512.2:p.Ser203Pro | |
| NM_170769.2:c.607T>C | NP_739575.2:p.Ser203Pro | |
| XM_017011325.1:c.148T>C | XP_016866814.1:p.Ser50Pro | |
| XM_017011326.1:c.607T>C | XP_016866815.1:p.Ser203Pro | |
| NM_025236.4:c.403T>C MANE Select | NP_079512.3:p.Ser135Pro | |
| NM_170769.3:c.403T>C | NP_739575.3:p.Ser135Pro |