Linked Data
ClinVar Variation Id:
425068
dbSNP Id:
rs757177349
ExAC:
15:48780431 G / A
gnomAD v2:
15-48780431-G-A
gnomAD v3:
15-48488234-G-A
gnomAD v4:
15-48488234-G-A
PubMed:
PMID:25363768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48488234G>A , CM000677.2:g.48488234G>A | GRCh38 |
| NC_000015.9:g.48780431G>A , CM000677.1:g.48780431G>A | GRCh37 |
| NC_000015.8:g.46567723G>A | NCBI36 |
| NG_008805.2:g.162555C>T , LRG_778:g.162555C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.3216C>T | ENSP00000453958.2:p.Asp1072= | |
| ENST00000674301.2:c.3216C>T | ENSP00000501333.2:p.Asp1072= | |
| ENST00000684448.1:n.1890C>T | ||
| ENST00000316623.10:c.3216C>T MANE Select | ENSP00000325527.5:p.Asp1072= | |
| ENST00000316623.9:c.3216C>T | ENSP00000325527.5:p.Asp1072= | |
| ENST00000537463.6:c.637-13584C>T | ENSP00000440294.2:n.637-13584C>T | |
| NM_000138.4:c.3216C>T , LRG_778t1:c.3216C>T | NP_000129.3:p.Asp1072= | |
| NM_000138.5:c.3216C>T MANE Select | NP_000129.3:p.Asp1072= |