ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001107 (NFE)
Exomes Max Group AF
0.00001175 (NFE)
Revel Score:
ENST00000288710 (MANE Select)
0.034
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26402028C>A , CM000664.2:g.26402028C>A | GRCh38 |
| NC_000002.11:g.26624896C>A , CM000664.1:g.26624896C>A | GRCh37 |
| NC_000002.10:g.26478400C>A | NCBI36 |
| NG_042824.1:g.5117C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288710.7:c.39C>A MANE Select | ENSP00000288710.2:p.Asn13Lys | |
| ENST00000649059.1:c.25C>A | ||
| ENST00000288710.6:c.39C>A | ENSP00000288710.2:p.Asn13Lys | |
| ENST00000421869.5:c.39C>A | ENSP00000414375.1:p.Asn13Lys | |
| NM_145038.3:c.39C>A | NP_659475.2:p.Asn13Lys | |
| NM_145038.4:c.39C>A | NP_659475.2:p.Asn13Lys | |
| XM_005264637.3:c.-396C>A | XP_005264694.1:n.-396C>A | |
| XM_017005271.1:c.-842C>A | XP_016860760.1:n.-842C>A | |
| XM_024453218.1:c.-658C>A | XP_024308986.1:n.-658C>A | |
| NM_145038.5:c.39C>A MANE Select | NP_659475.2:p.Asn13Lys |