Linked Data
ClinVar Variation Id:
533363
ClinVar RCV Id:
RCV000640458
dbSNP Id:
rs763295984
ExAC:
15:23052670 C / T
gnomAD v2:
15-23052670-C-T
gnomAD v4:
15-22820398-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22820398G>A , CM000677.2:g.22820398G>A | GRCh38 |
| NC_000015.9:g.23052670C>T , CM000677.1:g.23052670C>T | GRCh37 |
| NC_000015.8:g.20604111C>T | NCBI36 |
| NG_009056.1:g.39174G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337435.9:c.403G>A MANE Select | ENSP00000337452.4:p.Val135Met | |
| ENST00000337435.8:c.403G>A | ENSP00000337452.4:p.Val135Met | |
| ENST00000437912.6:c.178G>A | ENSP00000393962.2:p.Val60Met | |
| ENST00000557930.1:c.318G>A | ENSP00000453797.1:n.318G>A | |
| ENST00000559448.5:c.375G>A | ||
| ENST00000560069.5:n.456G>A | ||
| ENST00000561183.5:c.178G>A | ENSP00000453722.1:p.Val60Met | |
| NM_001142275.1:c.178G>A | NP_001135747.1:p.Val60Met | |
| NM_144599.4:c.403G>A | NP_653200.2:p.Val135Met | |
| NM_144599.5:c.403G>A MANE Select | NP_653200.2:p.Val135Met |