Linked Data
ClinVar Variation Id:
2864226
ClinVar RCV Id:
RCV003752520
dbSNP Id:
rs757564967
ExAC:
8:65528669 T / C
gnomAD v3:
8-64616112-T-C
gnomAD v4:
8-64616112-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64616112T>C , CM000670.2:g.64616112T>C | GRCh38 |
| NC_000008.10:g.65528669T>C , CM000670.1:g.65528669T>C | GRCh37 |
| NC_000008.9:g.65691223T>C | NCBI36 |
| NG_008338.1:g.187680A>G | |
| NG_008338.2:g.187680A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.429A>G MANE Select | ENSP00000310721.3:p.Gln143= | |
| ENST00000310193.3:c.429A>G | ENSP00000310721.3:p.Gln143= | |
| NM_004820.3:c.429A>G | NP_004811.1:p.Gln143= | |
| NM_001324112.1:c.429A>G | NP_001311041.1:p.Gln143= | |
| NM_004820.4:c.429A>G | NP_004811.1:p.Gln143= | |
| XM_017014002.1:c.495A>G | XP_016869491.1:p.Gln165= | |
| NM_004820.5:c.429A>G MANE Select | NP_004811.1:p.Gln143= | |
| NM_001324112.2:c.429A>G | NP_001311041.1:p.Gln143= |