Linked Data
ClinVar Variation Id:
790907
ClinVar RCV Id:
RCV000973779
dbSNP Id:
rs200702041
ExAC:
8:145108191 T / C
gnomAD v2:
8-145108191-T-C
gnomAD v3:
8-144053288-T-C
gnomAD v4:
8-144053288-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144053288T>C , CM000670.2:g.144053288T>C | GRCh38 |
| NC_000008.10:g.145108191T>C , CM000670.1:g.145108191T>C | GRCh37 |
| NC_000008.9:g.145180179T>C | NCBI36 |
| NG_032671.1:g.12394A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000618853.5:c.2792A>G MANE Select | ENSP00000480476.1:p.Gln931Arg | |
| ENST00000527993.1:n.199A>G | ||
| ENST00000531027.1:n.425A>G | ||
| ENST00000618853.4:c.2792A>G | ENSP00000480476.1:p.Gln931Arg | |
| NM_017570.4:c.2792A>G | NP_060040.1:p.Gln931Arg | |
| XM_011516960.1:c.3080A>G | XP_011515262.1:p.Gln1027Arg | |
| XM_011516961.1:c.3075A>G | XP_011515263.1:p.Pro1025= | |
| XR_001745509.1:n.3167A>G | ||
| NM_017570.5:c.2792A>G MANE Select | NP_060040.1:p.Gln931Arg |