Linked Data
ClinVar Variation Id:
14339
ClinVar RCV Id:
RCV000022657
dbSNP Id:
rs74315393
ExAC:
20:54824336 T / A
gnomAD v2:
20-54824336-T-A
gnomAD v3:
20-56249280-T-A
gnomAD v4:
20-56249280-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.56249280T>A , CM000682.2:g.56249280T>A | GRCh38 |
| NC_000020.10:g.54824336T>A , CM000682.1:g.54824336T>A | GRCh37 |
| NC_000020.9:g.54257743T>A | NCBI36 |
| NG_012200.1:g.5549T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243911.2:c.437T>A MANE Select | ENSP00000243911.2:p.Ile146Asn | |
| NM_019888.3:c.437T>A MANE Select | NP_063941.3:p.Ile146Asn |