Linked Data
ClinVar Variation Id:
770669
ClinVar RCV Id:
RCV000949853
dbSNP Id:
rs1132443
ExAC:
20:46279866 A / G
gnomAD v2:
20-46279866-A-G
gnomAD v3:
20-47651122-A-G
gnomAD v4:
20-47651122-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.47651122A>G , CM000682.2:g.47651122A>G | GRCh38 |
| NC_000020.10:g.46279866A>G , CM000682.1:g.46279866A>G | GRCh37 |
| NC_000020.9:g.45713273A>G | NCBI36 |
| NG_016810.1:g.154266A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371998.8:c.3792A>G MANE Select | ENSP00000361066.3:p.Gln1264= | |
| ENST00000371997.3:c.3765A>G | ENSP00000361065.3:p.Gln1255= | |
| ENST00000371998.7:c.3792A>G | ENSP00000361066.3:p.Gln1264= | |
| ENST00000372004.7:c.3780A>G | ENSP00000361073.1:p.Gln1260= | |
| NM_001174087.1:c.3789A>G | NP_001167558.1:p.Gln1263= | |
| NM_001174088.1:c.3765A>G | NP_001167559.1:p.Gln1255= | |
| NM_006534.3:c.3780A>G | NP_006525.2:p.Gln1260= | |
| NM_181659.2:c.3792A>G | NP_858045.1:p.Gln1264= | |
| NM_181659.3:c.3792A>G MANE Select | NP_858045.1:p.Gln1264= | |
| NM_001174087.2:c.3789A>G | NP_001167558.1:p.Gln1263= | |
| NM_001174088.2:c.3765A>G | NP_001167559.1:p.Gln1255= | |
| NM_006534.4:c.3780A>G | NP_006525.2:p.Gln1260= |