ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Revel Score:
ENST00000541158
0.364
ENST00000412429
0.364
ENST00000298171 (MANE Select)
0.364
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.81143955G>A , CM000676.2:g.81143955G>A | GRCh38 |
| NC_000014.8:g.81610299G>A , CM000676.1:g.81610299G>A | GRCh37 |
| NC_000014.7:g.80680052G>A | NCBI36 |
| NG_009206.1:g.193431G>A , LRG_523:g.193431G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298171.7:c.1897G>A MANE Select | ENSP00000298171.2:p.Asp633Asn | |
| ENST00000637447.1:c.800G>A | ||
| ENST00000298171.6:c.1897G>A | ENSP00000298171.2:p.Asp633Asn | |
| ENST00000541158.6:c.1897G>A | ENSP00000441235.2:p.Asp633Asn | |
| NM_000369.2:c.1897G>A , LRG_523t1:c.1897G>A | NP_000360.2:p.Asp633Asn | |
| XM_005268037.3:c.1897G>A | XP_005268094.1:p.Asp633Asn | |
| XM_011537119.1:c.1618G>A | XP_011535421.1:p.Asp540Asn | |
| XR_245790.3:n.2086+21238C>T | ||
| XR_429385.2:n.853+21238C>T | ||
| XR_429386.2:n.854+21238C>T | ||
| XR_944075.1:n.865+21238C>T | ||
| XR_944076.1:n.861+21238C>T | ||
| XR_944077.1:n.865+21238C>T | ||
| XR_944078.1:n.865+21238C>T | ||
| XR_944079.1:n.855+21238C>T | ||
| XM_005268037.4:c.1897G>A | XP_005268094.1:p.Asp633Asn | |
| XM_011537119.2:c.1618G>A | XP_011535421.1:p.Asp540Asn | |
| XR_001751021.1:n.2753+21238C>T | ||
| XR_001751022.1:n.2753+21238C>T | ||
| XR_001751023.1:n.2753+21238C>T | ||
| XR_944075.3:n.929+21238C>T | ||
| NM_000369.4:c.1897G>A | NP_000360.2:p.Asp633Asn | |
| NM_000369.5:c.1897G>A MANE Select | NP_000360.2:p.Asp633Asn |