COSMIC:
COSM4003379 (not active)
COSM4003380 (not active)
Revel Score:
ENST00000398454
0.022
ENST00000359874
0.022
ENST00000508733
0.022
ENST00000256084 (MANE Select)
0.022
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65274751 (AMR)
Genomes Max Group AF
0.57085664 (AMR)
Exomes Max Group AF
0.67809821 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148100464G>A , CM000667.2:g.148100464G>A | GRCh38 |
| NC_000005.9:g.147480027G>A , CM000667.1:g.147480027G>A | GRCh37 |
| NC_000005.8:g.147460220G>A | NCBI36 |
| NG_009633.1:g.41493G>A , LRG_110:g.41493G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481286.6:n.712G>A | ||
| ENST00000256084.8:c.1103G>A MANE Select | ENSP00000256084.7:p.Ser368Asn | |
| ENST00000256084.7:c.1103G>A | ENSP00000256084.7:p.Ser368Asn | |
| ENST00000359874.7:c.1103G>A | ENSP00000352936.3:p.Ser368Asn | |
| ENST00000398454.5:c.1103G>A | ENSP00000381472.1:p.Ser368Asn | |
| ENST00000476608.1:n.619G>A | ||
| ENST00000507988.5:n.1267G>A | ||
| ENST00000508733.5:c.1046G>A | ENSP00000421519.1:p.Ser349Asn | |
| NM_001127698.1:c.1103G>A | NP_001121170.1:p.Ser368Asn | |
| NM_001127699.1:c.1103G>A | NP_001121171.1:p.Ser368Asn | |
| NM_006846.3:c.1103G>A , LRG_110t1:c.1103G>A | NP_006837.2:p.Ser368Asn | |
| XM_011537550.1:c.1046G>A | XP_011535852.1:p.Ser349Asn | |
| XM_011537551.1:c.1019G>A | XP_011535853.1:p.Ser340Asn | |
| XM_011537551.2:c.1019G>A | XP_011535853.1:p.Ser340Asn | |
| NM_001127698.2:c.1103G>A | NP_001121170.1:p.Ser368Asn | |
| NM_001127699.2:c.1103G>A | NP_001121171.1:p.Ser368Asn | |
| NM_006846.4:c.1103G>A MANE Select | NP_006837.2:p.Ser368Asn |