Linked Data
ClinVar Variation Id:
908369
ClinVar RCV Id:
RCV001158839
dbSNP Id:
rs948771650
gnomAD v3:
8-64798722-C-T
gnomAD v4:
8-64798722-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64798722C>T , CM000670.2:g.64798722C>T | GRCh38 |
| NC_000008.10:g.65711279C>T , CM000670.1:g.65711279C>T | GRCh37 |
| NC_000008.9:g.65873833C>T | NCBI36 |
| NG_008338.1:g.5070G>A | |
| NG_008338.2:g.5070G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.-135G>A MANE Select | ENSP00000310721.3:n.-135G>A | |
| ENST00000310193.3:c.-135G>A | ENSP00000310721.3:n.-135G>A | |
| NM_004820.3:c.-135G>A | NP_004811.1:n.-135G>A | |
| NM_001324112.1:c.-135G>A | NP_001311041.1:n.-135G>A | |
| NM_004820.4:c.-135G>A | NP_004811.1:n.-135G>A | |
| NM_004820.5:c.-135G>A MANE Select | NP_004811.1:n.-135G>A | |
| NM_001324112.2:c.-135G>A | NP_001311041.1:n.-135G>A |