Revel Score:
ENST00000327047 (MANE Select)
0.546
ENST00000328863
0.546
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001962 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001914 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972567T>C , CM000665.2:g.150972567T>C | GRCh38 |
| NC_000003.11:g.150690354T>C , CM000665.1:g.150690354T>C | GRCh37 |
| NC_000003.10:g.152173044T>C | NCBI36 |
| NG_009168.1:g.5433A>G , LRG_700:g.5433A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.142A>G MANE Select | ENSP00000322280.1:p.Asn48Asp | |
| ENST00000468836.2:c.118A>G | ENSP00000419892.2:p.Asn40Asp | |
| ENST00000327047.5:c.142A>G | ENSP00000322280.1:p.Asn48Asp | |
| ENST00000328863.8:c.142A>G | ENSP00000329158.4:p.Asn48Asp | |
| ENST00000468836.1:c.-259A>G | ENSP00000419892.1:n.-259A>G | |
| ENST00000472224.1:n.148A>G | ||
| NM_001195794.1:c.142A>G , LRG_700t1:c.142A>G | NP_001182723.1:p.Asn48Asp | |
| NM_001256819.1:c.142A>G | NP_001243748.1:p.Asn48Asp | |
| NM_174878.2:c.142A>G | NP_777367.1:p.Asn48Asp | |
| NR_046380.2:n.433A>G | ||
| XR_924167.1:n.454A>G | ||
| NM_001256819.2:c.142A>G | NP_001243748.1:p.Asn48Asp | |
| NM_174878.3:c.142A>G MANE Select | NP_777367.1:p.Asn48Asp | |
| NR_046380.3:n.161A>G |