Linked Data
ClinVar Variation Id:
350626
ClinVar RCV Id:
RCV000271365
dbSNP Id:
rs761208282
gnomAD v4:
5-126836893-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126836893G>A , CM000667.2:g.126836893G>A | GRCh38 |
| NC_000005.9:g.126172585G>A , CM000667.1:g.126172585G>A | GRCh37 |
| NC_000005.8:g.126200484G>A | NCBI36 |
| NG_008360.2:g.64753G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261366.10:c.*629G>A MANE Select | ENSP00000261366.5:n.*629G>A | |
| ENST00000261366.9:c.*629G>A | ENSP00000261366.5:n.*629G>A | |
| ENST00000460265.5:c.*1478G>A | ENSP00000486528.1:n.*1478G>A | |
| NM_001198557.1:c.*629G>A | NP_001185486.1:n.*629G>A | |
| NM_005573.3:c.*629G>A | NP_005564.1:n.*629G>A | |
| XR_948250.1:n.2832G>A | ||
| NR_134488.1:n.3354G>A | ||
| NM_005573.4:c.*629G>A MANE Select | NP_005564.1:n.*629G>A | |
| NM_001198557.2:c.*629G>A | NP_001185486.1:n.*629G>A |