Linked Data
ClinVar Variation Id:
36045
ClinVar RCV Id:
RCV000029705
dbSNP Id:
rs193922186
gnomAD v3:
15-48503843-G-T
gnomAD v4:
15-48503843-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48503843G>T , CM000677.2:g.48503843G>T | GRCh38 |
| NC_000015.9:g.48796040G>T , CM000677.1:g.48796040G>T | GRCh37 |
| NC_000015.8:g.46583332G>T | NCBI36 |
| NG_008805.2:g.146946C>A , LRG_778:g.146946C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.2057C>A | ENSP00000453958.2:p.Ala686Asp | |
| ENST00000674301.2:c.2057C>A | ENSP00000501333.2:p.Ala686Asp | |
| ENST00000684448.1:n.731C>A | ||
| ENST00000316623.10:c.2057C>A MANE Select | ENSP00000325527.5:p.Ala686Asp | |
| ENST00000316623.9:c.2057C>A | ENSP00000325527.5:p.Ala686Asp | |
| ENST00000537463.6:c.637-29193C>A | ENSP00000440294.2:n.637-29193C>A | |
| NM_000138.4:c.2057C>A , LRG_778t1:c.2057C>A | NP_000129.3:p.Ala686Asp | |
| NM_000138.5:c.2057C>A MANE Select | NP_000129.3:p.Ala686Asp |