Linked Data
ClinVar Variation Id:
3060533
ClinVar RCV Id:
RCV003984512
dbSNP Id:
rs2147089513
gnomAD v4:
X-64192394-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.64192394A>T , CM000685.2:g.64192394A>T | GRCh38 |
| NC_000023.10:g.63412274A>T , CM000685.1:g.63412274A>T | GRCh37 |
| NC_000023.9:g.63328999A>T | NCBI36 |
| NG_021345.1:g.18351T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374869.8:c.893T>A MANE Select | ENSP00000364003.4:p.Val298Glu | |
| ENST00000330258.3:c.893T>A | ENSP00000329117.3:p.Val298Glu | |
| ENST00000374869.7:c.893T>A | ENSP00000364003.3:p.Val298Glu | |
| NM_152424.3:c.893T>A | NP_689637.3:p.Val298Glu | |
| XM_011530858.1:c.893T>A | XP_011529160.1:p.Val298Glu | |
| NM_152424.4:c.893T>A MANE Select | NP_689637.3:p.Val298Glu |