Linked Data
ClinVar Variation Id:
3069841
ClinVar RCV Id:
RCV004009873
dbSNP Id:
rs753062243
ExAC:
1:55527201 A / G
gnomAD v2:
1-55527201-A-G
gnomAD v4:
1-55061528-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55061528A>G , CM000663.2:g.55061528A>G | GRCh38 |
| NC_000001.10:g.55527201A>G , CM000663.1:g.55527201A>G | GRCh37 |
| NC_000001.9:g.55299789A>G | NCBI36 |
| NG_009061.1:g.26982A>G , LRG_275:g.26982A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*175A>G | ENSP00000501161.2:n.*175A>G | |
| ENST00000710286.1:c.2192A>G | ENSP00000518176.1:p.Glu731Gly | |
| ENST00000673903.1:c.1460A>G | ENSP00000501257.1:p.Glu487Gly | |
| ENST00000673913.1:c.685A>G | ENSP00000501161.1:n.685A>G | |
| ENST00000302118.5:c.1835A>G MANE Select | ENSP00000303208.5:p.Glu612Gly | |
| ENST00000490692.1:n.2381A>G | ||
| NM_174936.3:c.1835A>G , LRG_275t1:c.1835A>G | NP_777596.2:p.Glu612Gly | |
| NR_110451.1:n.1442A>G | ||
| XM_011541193.1:c.956A>G | XP_011539495.1:p.Glu319Gly | |
| NM_174936.4:c.1835A>G MANE Select | NP_777596.2:p.Glu612Gly | |
| NR_110451.2:n.1442A>G |