Linked Data
ClinVar Variation Id:
927114
ClinVar RCV Id:
RCV001190136
dbSNP Id:
rs761714505
ExAC:
1:55529191 C / G
gnomAD v2:
1-55529191-C-G
gnomAD v4:
1-55063518-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063518C>G , CM000663.2:g.55063518C>G | GRCh38 |
| NC_000001.10:g.55529191C>G , CM000663.1:g.55529191C>G | GRCh37 |
| NC_000001.9:g.55301779C>G | NCBI36 |
| NG_009061.1:g.28972C>G , LRG_275:g.28972C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*353C>G | ENSP00000501161.2:n.*353C>G | |
| ENST00000710286.1:c.2370C>G | ENSP00000518176.1:p.Ala790= | |
| ENST00000673903.1:c.1638C>G | ENSP00000501257.1:p.Ala546= | |
| ENST00000673913.1:c.863C>G | ENSP00000501161.1:n.863C>G | |
| ENST00000302118.5:c.2013C>G MANE Select | ENSP00000303208.5:p.Ala671= | |
| ENST00000490692.1:n.2559C>G | ||
| NM_174936.3:c.2013C>G , LRG_275t1:c.2013C>G | NP_777596.2:p.Ala671= | |
| NR_110451.1:n.1620C>G | ||
| XM_011541193.1:c.1134C>G | XP_011539495.1:p.Ala378= | |
| NM_174936.4:c.2013C>G MANE Select | NP_777596.2:p.Ala671= | |
| NR_110451.2:n.1620C>G |