Linked Data
ClinVar Variation Id:
16913
ClinVar RCV Id:
RCV001668128
dbSNP Id:
rs10262966
ExAC:
7:75583325 A / G
gnomAD v2:
7-75583325-A-G
gnomAD v3:
7-75954007-A-G
gnomAD v4:
7-75954007-A-G
PubMed:
PMID:15483095
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75954007A>G , CM000669.2:g.75954007A>G | GRCh38 |
| NC_000007.13:g.75583325A>G , CM000669.1:g.75583325A>G | GRCh37 |
| NC_000007.12:g.75421261A>G | NCBI36 |
| NG_008930.1:g.43906A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706544.1:c.15A>G | ENSP00000516442.1:p.Gly5= | |
| ENST00000706545.1:c.15A>G | ENSP00000516443.1:p.Gly5= | |
| ENST00000706546.1:c.15A>G | ENSP00000516444.1:p.Gly5= | |
| ENST00000706547.1:c.15A>G | ENSP00000516445.1:p.Gly5= | |
| ENST00000461988.6:c.15A>G MANE Select | ENSP00000419970.1:p.Gly5= | |
| ENST00000394893.5:c.15A>G | ENSP00000378355.1:p.Gly5= | |
| ENST00000412064.6:c.15A>G | ENSP00000404731.2:p.Gly5= | |
| ENST00000412521.5:c.15A>G | ENSP00000409238.1:p.Gly5= | |
| ENST00000414186.5:c.15A>G | ENSP00000399327.1:p.Gly5= | |
| ENST00000418341.1:c.15A>G | ENSP00000389719.1:p.Gly5= | |
| ENST00000421059.1:c.15A>G | ENSP00000409881.1:p.Gly5= | |
| ENST00000432753.5:c.15A>G | ENSP00000389409.1:p.Gly5= | |
| ENST00000439963.5:c.15A>G | ENSP00000390540.1:p.Gly5= | |
| ENST00000448410.5:c.15A>G | ENSP00000399409.1:p.Gly5= | |
| ENST00000449920.5:c.15A>G | ENSP00000399556.1:p.Gly5= | |
| ENST00000453773.5:c.15A>G | ENSP00000395813.1:p.Gly5= | |
| ENST00000454934.5:c.15A>G | ENSP00000414263.1:p.Gly5= | |
| ENST00000461988.5:c.15A>G | ENSP00000419970.1:p.Gly5= | |
| ENST00000471238.5:n.42A>G | ||
| NM_000941.2:c.15A>G | NP_000932.3:p.Gly5= | |
| NM_000941.3:c.15A>G | NP_000932.3:p.Gly5= | |
| NM_001367562.1:c.15A>G | NP_001354491.1:p.Gly5= | |
| NM_001382655.1:c.15A>G | NP_001369584.1:p.Gly5= | |
| NM_001382657.1:c.15A>G | NP_001369586.1:p.Gly5= | |
| NM_001382658.1:c.15A>G | NP_001369587.1:p.Gly5= | |
| NM_001382659.1:c.15A>G | NP_001369588.1:p.Gly5= | |
| NM_001382662.1:c.15A>G | NP_001369591.1:p.Gly5= | |
| NM_001367562.3:c.6A>G | NP_001354491.2:p.Gly2= | |
| NM_001382655.3:c.6A>G | NP_001369584.2:p.Gly2= | |
| NM_001382657.2:c.6A>G | NP_001369586.2:p.Gly2= | |
| NM_001382658.3:c.6A>G | NP_001369587.2:p.Gly2= | |
| NM_001382659.3:c.6A>G | NP_001369588.2:p.Gly2= | |
| NM_001382662.3:c.6A>G | NP_001369591.2:p.Gly2= | |
| NM_001395413.1:c.6A>G MANE Select | NP_001382342.1:p.Gly2= |