Linked Data
ClinVar Variation Id:
363575
ClinVar RCV Id:
RCV000334680
dbSNP Id:
rs189470710
gnomAD v2:
8-65508797-T-A
gnomAD v3:
8-64596240-T-A
gnomAD v4:
8-64596240-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64596240T>A , CM000670.2:g.64596240T>A | GRCh38 |
| NC_000008.10:g.65508797T>A , CM000670.1:g.65508797T>A | GRCh37 |
| NC_000008.9:g.65671351T>A | NCBI36 |
| NG_008338.1:g.207552A>T | |
| NG_008338.2:g.207552A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.*402A>T MANE Select | ENSP00000310721.3:n.*402A>T | |
| ENST00000310193.3:c.*402A>T | ENSP00000310721.3:n.*402A>T | |
| ENST00000523954.1:n.508-6396A>T | ||
| NM_004820.3:c.*402A>T | NP_004811.1:n.*402A>T | |
| NM_001324112.1:c.1234-6396A>T | NP_001311041.1:n.1234-6396A>T | |
| NM_004820.4:c.*402A>T | NP_004811.1:n.*402A>T | |
| XM_017014002.1:c.*402A>T | XP_016869491.1:n.*402A>T | |
| NM_004820.5:c.*402A>T MANE Select | NP_004811.1:n.*402A>T | |
| NM_001324112.2:c.1234-6396A>T | NP_001311041.1:n.1234-6396A>T |