Linked Data
ClinVar Variation Id:
365779
ClinVar RCV Id:
RCV000355033
dbSNP Id:
rs886063690
gnomAD v3:
9-134844091-G-A
gnomAD v4:
9-134844091-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134844091G>A , CM000671.2:g.134844091G>A | GRCh38 |
| NC_000009.11:g.137735937G>A , CM000671.1:g.137735937G>A | GRCh37 |
| NC_000009.10:g.136875758G>A | NCBI36 |
| NG_008030.1:g.207286G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.*1788G>A | ENSP00000360885.4:n.*1788G>A | |
| ENST00000371817.8:c.*1788G>A MANE Select | ENSP00000360882.3:n.*1788G>A | |
| ENST00000371817.7:c.*1788G>A | ENSP00000360882.3:n.*1788G>A | |
| ENST00000618395.4:c.*1788G>A | ENSP00000481360.1:n.*1788G>A | |
| NM_000093.4:c.*1788G>A | NP_000084.3:n.*1788G>A | |
| NM_001278074.1:c.*1788G>A | NP_001265003.1:n.*1788G>A | |
| NR_103451.2:n.71-23882C>T | ||
| NM_000093.5:c.*1788G>A MANE Select | NP_000084.3:n.*1788G>A |