ClinVar Variation:
COSMIC:
COSM1752544
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47634779 (AFR)
Genomes Max Group AF
0.46797231 (AFR)
Exomes Max Group AF
0.48295042 (AFR)
Revel Score:
ENST00000260630
0.095
ENST00000407341
0.095
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38075034C>A , CM000664.2:g.38075034C>A | GRCh38 |
| NC_000002.11:g.38302177C>A , CM000664.1:g.38302177C>A | GRCh37 |
| NC_000002.10:g.38155681C>A | NCBI36 |
| NG_008386.2:g.6068G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.355G>T | ENSP00000478839.2:p.Ala119Ser | |
| ENST00000610745.5:c.355G>T MANE Select | ENSP00000478561.1:p.Ala119Ser | |
| ENST00000490576.1:c.355G>T | ENSP00000478839.1:p.Ala119Ser | |
| ENST00000494864.1:c.-70-3724G>T | ENSP00000479876.1:n.-70-3724G>T | |
| ENST00000610745.4:c.355G>T | ENSP00000478561.1:p.Ala119Ser | |
| ENST00000613082.1:n.376-626G>T | ||
| ENST00000614273.1:c.355G>T | ENSP00000483678.1:p.Ala119Ser | |
| NM_000104.3:c.355G>T | NP_000095.2:p.Ala119Ser | |
| NM_000104.4:c.355G>T MANE Select | NP_000095.2:p.Ala119Ser |