Linked Data
ClinVar Variation Id:
1981100
dbSNP Id:
rs1265090791
gnomAD v2:
8-65528310-A-C
gnomAD v3:
8-64615753-A-C
gnomAD v4:
8-64615753-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64615753A>C , CM000670.2:g.64615753A>C | GRCh38 |
| NC_000008.10:g.65528310A>C , CM000670.1:g.65528310A>C | GRCh37 |
| NC_000008.9:g.65690864A>C | NCBI36 |
| NG_008338.1:g.188039T>G | |
| NG_008338.2:g.188039T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.788T>G MANE Select | ENSP00000310721.3:p.Val263Gly | |
| ENST00000310193.3:c.788T>G | ENSP00000310721.3:p.Val263Gly | |
| ENST00000523954.1:n.62T>G | ||
| NM_004820.3:c.788T>G | NP_004811.1:p.Val263Gly | |
| NM_001324112.1:c.788T>G | NP_001311041.1:p.Val263Gly | |
| NM_004820.4:c.788T>G | NP_004811.1:p.Val263Gly | |
| XM_017014002.1:c.854T>G | XP_016869491.1:p.Val285Gly | |
| NM_004820.5:c.788T>G MANE Select | NP_004811.1:p.Val263Gly | |
| NM_001324112.2:c.788T>G | NP_001311041.1:p.Val263Gly |