Revel Score:
ENST00000438926
0.951
ENST00000262502
0.951
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00038765 (AMR)
Genomes Max Group AF
0.00055318 (AMR)
Exomes Max Group AF
0.00025957 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56894558T>C , CM000678.2:g.56894558T>C | GRCh38 |
| NC_000016.9:g.56928470T>C , CM000678.1:g.56928470T>C | GRCh37 |
| NC_000016.8:g.55485971T>C | NCBI36 |
| NG_009386.1:g.34352T>C | |
| NG_009386.2:g.34352T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.2549T>C MANE Select | ENSP00000456149.2:p.Leu850Pro | |
| ENST00000262502.5:c.2546T>C | ENSP00000262502.5:p.Leu849Pro | |
| ENST00000438926.6:c.2576T>C | ENSP00000402152.2:p.Leu859Pro | |
| ENST00000563236.5:c.2549T>C | ENSP00000456149.1:p.Leu850Pro | |
| ENST00000566786.5:c.2573T>C | ENSP00000457552.1:p.Leu858Pro | |
| NM_000339.2:c.2576T>C | NP_000330.2:p.Leu859Pro | |
| NM_001126107.1:c.2573T>C | NP_001119579.1:p.Leu858Pro | |
| NM_001126108.1:c.2549T>C | NP_001119580.1:p.Leu850Pro | |
| XM_005256119.1:c.2546T>C | XP_005256176.1:p.Leu849Pro | |
| XM_005256119.2:c.2546T>C | XP_005256176.1:p.Leu849Pro | |
| NM_000339.3:c.2576T>C | NP_000330.3:p.Leu859Pro | |
| NM_001126107.2:c.2573T>C | NP_001119579.2:p.Leu858Pro | |
| NM_001126108.2:c.2549T>C MANE Select | NP_001119580.2:p.Leu850Pro |