COSMIC:
COSM4986325 (not active)
COSM4986326 (not active)
Revel Score:
ENST00000336798
0.050
ENST00000339394 (MANE Select)
0.050
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33113682 (AFR)
Genomes Max Group AF
0.32564426 (AFR)
Exomes Max Group AF
0.334739 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.30874552C>T , CM000663.2:g.30874552C>T | GRCh38 |
| NC_000001.10:g.31347399C>T , CM000663.1:g.31347399C>T | GRCh37 |
| NC_000001.9:g.31119986C>T | NCBI36 |
| NG_013371.1:g.39082G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339394.7:c.907G>A MANE Select | ENSP00000344468.6:p.Asp303Asn | |
| ENST00000336798.11:c.733G>A | ENSP00000338346.7:p.Asp245Asn | |
| ENST00000339394.6:c.907G>A | ENSP00000344468.6:p.Asp303Asn | |
| NM_014654.3:c.907G>A | NP_055469.3:p.Asp303Asn | |
| XM_011542462.1:c.910G>A | XP_011540764.1:p.Asp304Asn | |
| XM_011542463.1:c.874G>A | XP_011540765.1:p.Asp292Asn | |
| XM_011542464.1:c.871G>A | XP_011540766.1:p.Asp291Asn | |
| XM_011542465.1:c.832G>A | XP_011540767.1:p.Asp278Asn | |
| XM_011542466.1:c.781G>A | XP_011540768.1:p.Asp261Asn | |
| XM_011542464.2:c.871G>A | XP_011540766.1:p.Asp291Asn | |
| NM_014654.4:c.907G>A MANE Select | NP_055469.3:p.Asp303Asn |