ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001533 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.0000146 (NFE)
Revel Score:
ENST00000327047 (MANE Select)
0.522
ENST00000328863
0.522
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972565A>C , CM000665.2:g.150972565A>C | GRCh38 |
| NC_000003.11:g.150690352A>C , CM000665.1:g.150690352A>C | GRCh37 |
| NC_000003.10:g.152173042A>C | NCBI36 |
| NG_009168.1:g.5435T>G , LRG_700:g.5435T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.144T>G MANE Select | ENSP00000322280.1:p.Asn48Lys | |
| ENST00000468836.2:c.120T>G | ENSP00000419892.2:p.Asn40Lys | |
| ENST00000327047.5:c.144T>G | ENSP00000322280.1:p.Asn48Lys | |
| ENST00000328863.8:c.144T>G | ENSP00000329158.4:p.Asn48Lys | |
| ENST00000468836.1:c.-257T>G | ENSP00000419892.1:n.-257T>G | |
| ENST00000472224.1:n.150T>G | ||
| NM_001195794.1:c.144T>G , LRG_700t1:c.144T>G | NP_001182723.1:p.Asn48Lys | |
| NM_001256819.1:c.144T>G | NP_001243748.1:p.Asn48Lys | |
| NM_174878.2:c.144T>G | NP_777367.1:p.Asn48Lys | |
| NR_046380.2:n.435T>G | ||
| XR_924167.1:n.456T>G | ||
| NM_001256819.2:c.144T>G | NP_001243748.1:p.Asn48Lys | |
| NM_174878.3:c.144T>G MANE Select | NP_777367.1:p.Asn48Lys | |
| NR_046380.3:n.163T>G |