dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001064 (AFR)
Genomes Max Group AF
0.00001921 (AFR)
Revel Score:
ENST00000264381 (MANE Select)
0.300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829543T>A , CM000665.2:g.165829543T>A | GRCh38 |
| NC_000003.11:g.165547331T>A , CM000665.1:g.165547331T>A | GRCh37 |
| NC_000003.10:g.167030025T>A | NCBI36 |
| NG_009031.1:g.12923A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1491A>T MANE Select | ENSP00000264381.3:p.Lys497Asn | |
| ENST00000264381.7:c.1491A>T | ENSP00000264381.3:p.Lys497Asn | |
| ENST00000479451.5:c.107+7771A>T | ENSP00000418325.1:n.107+7771A>T | |
| ENST00000482958.1:c.1491A>T | ENSP00000419804.1:p.Lys497Asn | |
| ENST00000488954.1:c.107+7771A>T | ENSP00000418504.1:n.107+7771A>T | |
| ENST00000497011.5:c.1491A>T | ENSP00000419505.1:p.Lys497Asn | |
| NM_000055.2:c.1491A>T | NP_000046.1:p.Lys497Asn | |
| XM_005247685.1:c.1614A>T | XP_005247742.1:p.Lys538Asn | |
| NM_000055.3:c.1491A>T | NP_000046.1:p.Lys497Asn | |
| NR_137635.1:n.159+7771A>T | ||
| NR_137636.1:n.1658A>T | ||
| NM_000055.4:c.1491A>T MANE Select | NP_000046.1:p.Lys497Asn | |
| NR_137635.2:n.110+7771A>T | ||
| NR_137636.2:n.1609A>T |