Linked Data
ClinVar Variation Id:
350864
ClinVar RCV Id:
RCV000407013
dbSNP Id:
rs562269545
gnomAD v2:
5-135364621-C-A
gnomAD v3:
5-136028932-C-A
gnomAD v4:
5-136028932-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136028932C>A , CM000667.2:g.136028932C>A | GRCh38 |
| NC_000005.9:g.135364621C>A , CM000667.1:g.135364621C>A | GRCh37 |
| NC_000005.8:g.135392520C>A | NCBI36 |
| NG_012646.1:g.5038C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.6:c.-124C>A | ENSP00000416330.2:n.-124C>A | |
| NM_000358.2:c.-124C>A | NP_000349.1:n.-124C>A | |
| XR_001742895.1:n.74+28G>T |