Linked Data
ClinVar Variation Id:
519734
ClinVar RCV Id:
RCV002314329
dbSNP Id:
rs1555395748
gnomAD v4:
15-48445416-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48445416A>T , CM000677.2:g.48445416A>T | GRCh38 |
| NC_000015.9:g.48737613A>T , CM000677.1:g.48737613A>T | GRCh37 |
| NC_000015.8:g.46524905A>T | NCBI36 |
| NG_008805.2:g.205373T>A , LRG_778:g.205373T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5877T>A | ENSP00000453958.2:p.Asn1959Lys | |
| ENST00000674301.2:c.5877T>A | ENSP00000501333.2:p.Asn1959Lys | |
| ENST00000684448.1:n.4551T>A | ||
| ENST00000316623.10:c.5877T>A MANE Select | ENSP00000325527.5:p.Asn1959Lys | |
| ENST00000674301.1:c.876T>A | ENSP00000501333.1:p.Asn292Lys | |
| ENST00000316623.9:c.5877T>A | ENSP00000325527.5:p.Asn1959Lys | |
| ENST00000537463.6:c.*1640T>A | ENSP00000440294.2:n.*1640T>A | |
| ENST00000559133.5:c.1184T>A | ||
| NM_000138.4:c.5877T>A , LRG_778t1:c.5877T>A | NP_000129.3:p.Asn1959Lys | |
| NM_000138.5:c.5877T>A MANE Select | NP_000129.3:p.Asn1959Lys |