Linked Data
ClinVar Variation Id:
2428407
ClinVar RCV Id:
RCV003120018
dbSNP Id:
rs781736228
ExAC:
8:65536971 A / C
gnomAD v2:
8-65536971-A-C
gnomAD v4:
8-64624414-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64624414A>C , CM000670.2:g.64624414A>C | GRCh38 |
| NC_000008.10:g.65536971A>C , CM000670.1:g.65536971A>C | GRCh37 |
| NC_000008.9:g.65699525A>C | NCBI36 |
| NG_008338.1:g.179378T>G | |
| NG_008338.2:g.179378T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.248T>G MANE Select | ENSP00000310721.3:p.Val83Gly | |
| ENST00000310193.3:c.248T>G | ENSP00000310721.3:p.Val83Gly | |
| NM_004820.3:c.248T>G | NP_004811.1:p.Val83Gly | |
| NM_001324112.1:c.248T>G | NP_001311041.1:p.Val83Gly | |
| NM_004820.4:c.248T>G | NP_004811.1:p.Val83Gly | |
| XM_017014002.1:c.314T>G | XP_016869491.1:p.Val105Gly | |
| NM_004820.5:c.248T>G MANE Select | NP_004811.1:p.Val83Gly | |
| NM_001324112.2:c.248T>G | NP_001311041.1:p.Val83Gly |