Linked Data
ClinVar Variation Id:
353310
dbSNP Id:
rs148490778
ExAC:
5:36629597 G / A
gnomAD v2:
5-36629597-G-A
gnomAD v3:
5-36629495-G-A
gnomAD v4:
5-36629495-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36629495G>A , CM000667.2:g.36629495G>A | GRCh38 |
| NC_000005.9:g.36629597G>A , CM000667.1:g.36629597G>A | GRCh37 |
| NC_000005.8:g.36665354G>A | NCBI36 |
| NG_015890.1:g.28141G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265113.9:c.227G>A MANE Select | ENSP00000265113.4:p.Arg76Gln | |
| ENST00000381918.4:c.227G>A | ENSP00000371343.4:p.Arg76Gln | |
| ENST00000502864.6:n.462G>A | ||
| ENST00000612708.5:c.227G>A | ENSP00000483657.1:p.Arg76Gln | |
| ENST00000613445.5:c.181+20891G>A | ENSP00000477672.1:n.181+20891G>A | |
| ENST00000679423.1:c.270G>A | ENSP00000505306.1:p.Pro90= | |
| ENST00000679784.1:c.227G>A | ENSP00000506030.1:p.Arg76Gln | |
| ENST00000679958.1:c.227G>A | ENSP00000505246.1:p.Arg76Gln | |
| ENST00000679983.1:c.227G>A | ENSP00000505238.1:p.Arg76Gln | |
| ENST00000679992.1:c.227G>A | ENSP00000506585.1:p.Arg76Gln | |
| ENST00000680048.1:c.227G>A | ENSP00000505296.1:p.Arg76Gln | |
| ENST00000680064.1:n.593G>A | ||
| ENST00000680125.1:c.227G>A | ENSP00000506424.1:p.Arg76Gln | |
| ENST00000680205.1:n.593G>A | ||
| ENST00000680232.1:c.227G>A | ENSP00000506207.1:p.Arg76Gln | |
| ENST00000680318.1:c.227G>A | ENSP00000505057.1:p.Arg76Gln | |
| ENST00000680527.1:c.*7G>A | ENSP00000504868.1:n.*7G>A | |
| ENST00000680655.1:c.227G>A | ENSP00000506436.1:p.Arg76Gln | |
| ENST00000680711.1:n.435G>A | ||
| ENST00000680876.1:n.593G>A | ||
| ENST00000680878.1:n.593G>A | ||
| ENST00000681623.1:n.46G>A | ||
| ENST00000681633.1:n.593G>A | ||
| ENST00000681775.1:n.462G>A | ||
| ENST00000681795.1:c.11G>A | ENSP00000505679.1:p.Arg4Gln | |
| ENST00000681814.1:n.342G>A | ||
| ENST00000681909.1:c.181+20891G>A | ENSP00000506599.1:n.181+20891G>A | |
| ENST00000681926.1:c.227G>A | ENSP00000505850.1:p.Arg76Gln | |
| ENST00000265113.8:c.227G>A | ENSP00000265113.4:p.Arg76Gln | |
| ENST00000381918.3:c.227G>A | ENSP00000371343.3:p.Arg76Gln | |
| ENST00000502864.5:n.161G>A | ||
| ENST00000505202.5:c.227G>A | ENSP00000424986.1:p.Arg76Gln | |
| ENST00000509272.1:n.247G>A | ||
| ENST00000513646.1:c.227G>A | ENSP00000420992.1:p.Arg76Gln | |
| ENST00000513903.5:c.227G>A | ENSP00000427203.1:p.Arg76Gln | |
| ENST00000514563.5:n.292G>A | ||
| ENST00000612708.4:c.227G>A | ENSP00000483657.1:p.Arg76Gln | |
| ENST00000613445.4:c.181+20891G>A | ENSP00000477672.1:n.181+20891G>A | |
| NM_001166695.2:c.227G>A | NP_001160167.1:p.Arg76Gln | |
| NM_001289939.1:c.181+20891G>A | NP_001276868.1:n.181+20891G>A | |
| NM_001289940.1:c.227G>A | NP_001276869.1:p.Arg76Gln | |
| NM_004172.4:c.227G>A | NP_004163.3:p.Arg76Gln | |
| XM_005248342.1:c.227G>A | XP_005248399.1:p.Arg76Gln | |
| XM_011514084.1:c.-197G>A | XP_011512386.1:n.-197G>A | |
| XM_005248342.3:c.227G>A | XP_005248399.1:p.Arg76Gln | |
| XM_011514084.2:c.-197G>A | XP_011512386.1:n.-197G>A | |
| XM_024446181.1:c.227G>A | XP_024301949.1:p.Arg76Gln | |
| XM_024446182.1:c.227G>A | XP_024301950.1:p.Arg76Gln | |
| NM_004172.5:c.227G>A MANE Select | NP_004163.3:p.Arg76Gln | |
| NM_001166695.3:c.227G>A | NP_001160167.1:p.Arg76Gln | |
| NM_001289939.2:c.181+20891G>A | NP_001276868.1:n.181+20891G>A | |
| NM_001289940.2:c.227G>A | NP_001276869.1:p.Arg76Gln |