Linked Data
ClinVar Variation Id:
363574
ClinVar RCV Id:
RCV000391774
dbSNP Id:
rs113473170
gnomAD v2:
8-65508670-T-C
gnomAD v3:
8-64596113-T-C
gnomAD v4:
8-64596113-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64596113T>C , CM000670.2:g.64596113T>C | GRCh38 |
| NC_000008.10:g.65508670T>C , CM000670.1:g.65508670T>C | GRCh37 |
| NC_000008.9:g.65671224T>C | NCBI36 |
| NG_008338.1:g.207679A>G | |
| NG_008338.2:g.207679A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.*529A>G MANE Select | ENSP00000310721.3:n.*529A>G | |
| ENST00000523954.1:n.508-6269A>G | ||
| NM_004820.3:c.*529A>G | NP_004811.1:n.*529A>G | |
| NM_001324112.1:c.1234-6269A>G | NP_001311041.1:n.1234-6269A>G | |
| NM_004820.4:c.*529A>G | NP_004811.1:n.*529A>G | |
| XM_017014002.1:c.*529A>G | XP_016869491.1:n.*529A>G | |
| NM_004820.5:c.*529A>G MANE Select | NP_004811.1:n.*529A>G | |
| NM_001324112.2:c.1234-6269A>G | NP_001311041.1:n.1234-6269A>G |