Linked Data
ClinVar Variation Id:
3182306
ClinVar RCV Id:
RCV004473720
dbSNP Id:
rs762390277
ExAC:
17:54991208 A / T
gnomAD v2:
17-54991208-A-T
gnomAD v3:
17-56913847-A-T
gnomAD v4:
17-56913847-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56913847A>T , CM000679.2:g.56913847A>T | GRCh38 |
| NC_000017.10:g.54991208A>T , CM000679.1:g.54991208A>T | GRCh37 |
| NC_000017.9:g.52346207A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537230.3:c.142T>A | ENSP00000445961.1:p.Tyr48Asn | |
| ENST00000572021.6:c.142T>A | ENSP00000459980.2:p.Tyr48Asn | |
| ENST00000682766.1:c.142T>A | ENSP00000507876.1:p.Tyr48Asn | |
| ENST00000316881.9:c.142T>A MANE Select | ENSP00000323889.4:p.Tyr48Asn | |
| ENST00000648772.1:c.142T>A | ENSP00000498158.1:p.Tyr48Asn | |
| ENST00000316881.8:c.142T>A | ENSP00000323889.4:p.Tyr48Asn | |
| ENST00000537230.2:c.142T>A | ENSP00000445961.1:p.Tyr48Asn | |
| NM_005082.4:c.142T>A | NP_005073.2:p.Tyr48Asn | |
| NM_005082.5:c.142T>A MANE Select | NP_005073.2:p.Tyr48Asn |