COSMIC:
COSM5425552 (not active)
Revel Score:
ENST00000274276 (MANE Select)
0.031
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3210298 (EAS)
Genomes Max Group AF
0.34416686 (EAS)
Exomes Max Group AF
0.31658344 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.38921686G>A , CM000667.2:g.38921686G>A | GRCh38 |
| NC_000005.9:g.38921788G>A , CM000667.1:g.38921788G>A | GRCh37 |
| NC_000005.8:g.38957545G>A | NCBI36 |
| NG_016236.1:g.80829G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274276.8:c.1657G>A MANE Select | ENSP00000274276.3:p.Asp553Asn | |
| ENST00000274276.7:c.1657G>A | ENSP00000274276.3:p.Asp553Asn | |
| NM_003999.2:c.1657G>A | NP_003990.1:p.Asp553Asn | |
| XM_005248384.1:c.1660G>A | XP_005248441.1:p.Asp554Asn | |
| XM_005248385.1:c.1660G>A | XP_005248442.1:p.Asp554Asn | |
| XM_011514161.1:c.1660G>A | XP_011512463.1:p.Asp554Asn | |
| XR_925661.1:n.2049G>A | ||
| NM_001323505.1:c.1657G>A | NP_001310434.1:p.Asp553Asn | |
| NM_001323506.1:c.1660G>A | NP_001310435.1:p.Asp554Asn | |
| XM_011514161.2:c.1660G>A | XP_011512463.1:p.Asp554Asn | |
| XM_017010019.1:c.1657G>A | XP_016865508.1:p.Asp553Asn | |
| NM_003999.3:c.1657G>A MANE Select | NP_003990.1:p.Asp553Asn | |
| NM_001323505.2:c.1657G>A | NP_001310434.1:p.Asp553Asn | |
| NM_001323506.2:c.1660G>A | NP_001310435.1:p.Asp554Asn |