ClinVar RCV:
ClinVar Variation:
COSMIC:
COSM4001491
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.84670237 (AFR)
Genomes Max Group AF
0.84137601 (AFR)
Exomes Max Group AF
0.84827311 (AFR)
Revel Score:
ENST00000233242 (MANE Select)
0.055
ENST00000535079
0.055
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002409C>T , CM000664.2:g.21002409C>T | GRCh38 |
| NC_000002.11:g.21225281C>T , CM000664.1:g.21225281C>T | GRCh37 |
| NC_000002.10:g.21078786C>T | NCBI36 |
| NG_011793.1:g.46665G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.13013G>A MANE Select | ENSP00000233242.1:p.Ser4338Asn | |
| ENST00000616098.4:c.13013G>A | ENSP00000477990.1:p.Ser4338Asn | |
| NM_000384.2:c.13013G>A | NP_000375.2:p.Ser4338Asn | |
| XM_011532809.1:c.5870-3136G>A | XP_011531111.1:n.5870-3136G>A | |
| NM_000384.3:c.13013G>A MANE Select | NP_000375.3:p.Ser4338Asn |