Linked Data
ClinVar Variation Id:
1112504
ClinVar RCV Id:
RCV001439536
dbSNP Id:
rs1428390270
gnomAD v2:
15-48764833-A-G
gnomAD v4:
15-48472636-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48472636A>G , CM000677.2:g.48472636A>G | GRCh38 |
| NC_000015.9:g.48764833A>G , CM000677.1:g.48764833A>G | GRCh37 |
| NC_000015.8:g.46552125A>G | NCBI36 |
| NG_008805.2:g.178153T>C , LRG_778:g.178153T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4251T>C | ENSP00000453958.2:p.Asn1417= | |
| ENST00000674301.2:c.4251T>C | ENSP00000501333.2:p.Asn1417= | |
| ENST00000683268.1:n.218T>C | ||
| ENST00000684448.1:n.2925T>C | ||
| ENST00000316623.10:c.4251T>C MANE Select | ENSP00000325527.5:p.Asn1417= | |
| ENST00000316623.9:c.4251T>C | ENSP00000325527.5:p.Asn1417= | |
| ENST00000537463.6:c.*14T>C | ENSP00000440294.2:n.*14T>C | |
| NM_000138.4:c.4251T>C , LRG_778t1:c.4251T>C | NP_000129.3:p.Asn1417= | |
| NM_000138.5:c.4251T>C MANE Select | NP_000129.3:p.Asn1417= |