Linked Data
dbSNP Id:
rs1789310917
gnomAD v4:
7-75984883-G-A
MyVariant Identifiers:
chr7:g.75614201G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75984883G>A , CM000669.2:g.75984883G>A | GRCh38 |
| NC_000007.13:g.75614201G>A , CM000669.1:g.75614201G>A | GRCh37 |
| NC_000007.12:g.75452137G>A | NCBI36 |
| NG_008930.1:g.74782G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475509.2:c.948G>A | ENSP00000516446.1:p.Glu316= | |
| ENST00000706544.1:c.1074G>A | ENSP00000516442.1:p.Glu358= | |
| ENST00000706545.1:c.1173G>A | ENSP00000516443.1:p.Glu391= | |
| ENST00000706546.1:c.1173G>A | ENSP00000516444.1:p.Glu391= | |
| ENST00000706547.1:c.1173G>A | ENSP00000516445.1:p.Glu391= | |
| ENST00000461988.6:c.1173G>A MANE Select | ENSP00000419970.1:p.Glu391= | |
| ENST00000394893.5:c.1173G>A | ENSP00000378355.1:p.Glu391= | |
| ENST00000412064.6:c.*109-1177G>A | ENSP00000404731.2:n.*109-1177G>A | |
| ENST00000439269.1:c.387G>A | ENSP00000412490.1:p.Glu129= | |
| ENST00000447222.5:c.1324G>A | ||
| ENST00000454934.5:c.*478G>A | ENSP00000414263.1:n.*478G>A | |
| ENST00000461988.5:c.1173G>A | ENSP00000419970.1:p.Glu391= | |
| ENST00000487247.5:n.528G>A | ||
| ENST00000495770.1:n.175G>A | ||
| ENST00000496888.5:n.547G>A | ||
| NM_000941.2:c.1173G>A | NP_000932.3:p.Glu391= | |
| NM_000941.3:c.1173G>A | NP_000932.3:p.Glu391= | |
| NM_001367562.1:c.1173G>A | NP_001354491.1:p.Glu391= | |
| NM_001382655.1:c.1227G>A | NP_001369584.1:p.Glu409= | |
| NM_001382657.1:c.1173G>A | NP_001369586.1:p.Glu391= | |
| NM_001382658.1:c.1173G>A | NP_001369587.1:p.Glu391= | |
| NM_001382659.1:c.1173G>A | NP_001369588.1:p.Glu391= | |
| NM_001382662.1:c.1173G>A | NP_001369591.1:p.Glu391= | |
| NM_001367562.3:c.1164G>A | NP_001354491.2:p.Glu388= | |
| NM_001382655.3:c.1218G>A | NP_001369584.2:p.Glu406= | |
| NM_001382657.2:c.1164G>A | NP_001369586.2:p.Glu388= | |
| NM_001382658.3:c.1164G>A | NP_001369587.2:p.Glu388= | |
| NM_001382659.3:c.1164G>A | NP_001369588.2:p.Glu388= | |
| NM_001382662.3:c.1164G>A | NP_001369591.2:p.Glu388= | |
| NM_001395413.1:c.1164G>A MANE Select | NP_001382342.1:p.Glu388= |