Linked Data
ClinVar Variation Id:
821152
ClinVar RCV Id:
RCV001015288
dbSNP Id:
rs1575373280
gnomAD v4:
3-36993313-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993313T>A , CM000665.2:g.36993313T>A | GRCh38 |
| NC_000003.11:g.37034804T>A , CM000665.1:g.37034804T>A | GRCh37 |
| NC_000003.10:g.37009808T>A | NCBI36 |
| NG_007109.2:g.4964T>A , LRG_216:g.4964T>A | |
| NG_008418.1:g.4992A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-235T>A | ENSP00000500979.2:n.-235T>A |