ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000557 (AMR)
Exomes Max Group AF
0.00000749 (AMR)
Revel Score:
ENST00000329198 (MANE Select)
0.262
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173233159T>C , CM000667.2:g.173233159T>C | GRCh38 |
| NC_000005.9:g.172660162T>C , CM000667.1:g.172660162T>C | GRCh37 |
| NC_000005.8:g.172592768T>C | NCBI36 |
| NG_013340.1:g.7154A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.385A>G MANE Select | ENSP00000327758.4:p.Asn129Asp | |
| ENST00000329198.4:c.385A>G | ENSP00000327758.4:p.Asn129Asp | |
| ENST00000424406.2:c.*338A>G | ENSP00000395378.2:n.*338A>G | |
| ENST00000521848.1:c.*184A>G | ENSP00000427906.1:n.*184A>G | |
| NM_001166175.1:c.*338A>G | NP_001159647.1:n.*338A>G | |
| NM_001166176.1:c.*184A>G | NP_001159648.1:n.*184A>G | |
| NM_004387.3:c.385A>G | NP_004378.1:p.Asn129Asp | |
| NM_004387.4:c.385A>G MANE Select | NP_004378.1:p.Asn129Asp | |
| NM_001166175.2:c.*338A>G | NP_001159647.1:n.*338A>G | |
| NM_001166176.2:c.*184A>G | NP_001159648.1:n.*184A>G |