COSMIC:
COSM4419256 (not active)
Revel Score:
ENST00000397885 (MANE Select)
0.241
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08418556 (EAS)
Genomes Max Group AF
0.05724586 (EAS)
Exomes Max Group AF
0.08708707 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2838470C>T , CM000671.2:g.2838470C>T | GRCh38 |
| NC_000009.11:g.2838470C>T , CM000671.1:g.2838470C>T | GRCh37 |
| NC_000009.10:g.2828470C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397885.3:c.38G>A MANE Select | ENSP00000380982.2:p.Ser13Asn | |
| ENST00000397885.2:c.38G>A | ENSP00000380982.2:p.Ser13Asn | |
| NM_014878.4:c.38G>A | NP_055693.4:p.Ser13Asn | |
| NM_014878.5:c.38G>A MANE Select | NP_055693.4:p.Ser13Asn |