Revel Score:
ENST00000311014 (MANE Select)
0.065
ENST00000446837
0.065
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00018757 (AFR)
Genomes Max Group AF
0.00018522 (AFR)
Exomes Max Group AF
0.00011831 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74312123G>A , CM000679.2:g.74312123G>A | GRCh38 |
| NC_000017.10:g.72308262G>A , CM000679.1:g.72308262G>A | GRCh37 |
| NC_000017.9:g.69819857G>A | NCBI36 |
| NG_016865.1:g.42877G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311014.11:c.1615G>A MANE Select | ENSP00000308312.6:p.Val539Ile | |
| ENST00000311014.10:c.1615G>A | ENSP00000308312.6:p.Val539Ile | |
| ENST00000446837.2:c.1615G>A | ENSP00000400252.2:p.Val539Ile | |
| ENST00000579055.5:c.*938+48G>A | ENSP00000462767.1:n.*938+48G>A | |
| ENST00000579490.5:c.1786G>A | ENSP00000464197.1:p.Val596Ile | |
| ENST00000582036.5:c.1579G>A | ENSP00000461950.1:p.Val527Ile | |
| NM_001172810.1:c.1579G>A | NP_001166281.1:p.Val527Ile | |
| NM_023036.4:c.1615G>A | NP_075462.3:p.Val539Ile | |
| XM_011525125.1:c.1615G>A | XP_011523427.1:p.Val539Ile | |
| XR_429915.2:n.1701G>A | ||
| XR_429916.2:n.1616+1960G>A | ||
| XR_934518.1:n.1739G>A | ||
| XR_934519.1:n.1736G>A | ||
| XR_934520.1:n.1812G>A | ||
| XR_934521.1:n.1724G>A | ||
| XR_934522.1:n.1712G>A | ||
| XR_934523.1:n.1721G>A | ||
| XR_934524.1:n.1739G>A | ||
| XR_934525.1:n.1703G>A | ||
| XR_934526.1:n.1625G>A | ||
| XR_934527.1:n.1689+48G>A | ||
| XR_934528.1:n.1689+48G>A | ||
| XR_934529.1:n.1618G>A | ||
| XR_934530.1:n.1691G>A | ||
| XR_934531.1:n.1569+48G>A | ||
| XR_934970.1:n.482C>T | ||
| XR_934971.1:n.316C>T | ||
| NM_001172810.2:c.1579G>A | NP_001166281.1:p.Val527Ile | |
| NM_001353167.1:c.1615G>A | NP_001340096.1:p.Val539Ile | |
| NM_023036.5:c.1615G>A | NP_075462.3:p.Val539Ile | |
| NR_148379.1:n.1592+48G>A | ||
| XM_011525125.2:c.1615G>A | XP_011523427.1:p.Val539Ile | |
| XM_024450874.1:c.1615G>A | XP_024306642.1:p.Val539Ile | |
| XM_024450875.1:c.1615G>A | XP_024306643.1:p.Val539Ile | |
| XM_024450876.1:c.1615G>A | XP_024306644.1:p.Val539Ile | |
| XM_024450877.1:c.1615G>A | XP_024306645.1:p.Val539Ile | |
| XM_024450878.1:c.1615G>A | XP_024306646.1:p.Val539Ile | |
| XM_024450879.1:c.1615G>A | XP_024306647.1:p.Val539Ile | |
| XM_024450880.1:c.1579G>A | XP_024306648.1:p.Val527Ile | |
| XM_024450881.1:c.1501G>A | XP_024306649.1:p.Val501Ile | |
| XM_024450882.1:c.1579G>A | XP_024306650.1:p.Val527Ile | |
| XM_024450883.1:c.1567+48G>A | XP_024306651.1:n.1567+48G>A | |
| XM_024450884.1:c.1567+48G>A | XP_024306652.1:n.1567+48G>A | |
| XM_024450885.1:c.1186G>A | XP_024306653.1:p.Val396Ile | |
| XM_024450886.1:c.1186G>A | XP_024306654.1:p.Val396Ile | |
| XR_934970.2:n.486C>T | ||
| XR_934971.2:n.321C>T | ||
| NM_023036.6:c.1615G>A MANE Select | NP_075462.3:p.Val539Ile | |
| NM_001172810.3:c.1579G>A | NP_001166281.1:p.Val527Ile | |
| NM_001353167.2:c.1615G>A | NP_001340096.1:p.Val539Ile | |
| NR_148379.2:n.1568+48G>A |