Linked Data
ClinVar Variation Id:
353348
dbSNP Id:
rs530235885
gnomAD v2:
5-36687577-G-A
gnomAD v3:
5-36687475-G-A
gnomAD v4:
5-36687475-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36687475G>A , CM000667.2:g.36687475G>A | GRCh38 |
| NC_000005.9:g.36687577G>A , CM000667.1:g.36687577G>A | GRCh37 |
| NC_000005.8:g.36723334G>A | NCBI36 |
| NG_015890.1:g.86121G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265113.9:c.*1206G>A MANE Select | ENSP00000265113.4:n.*1206G>A | |
| ENST00000381918.4:c.*1206G>A | ENSP00000371343.4:n.*1206G>A | |
| ENST00000612708.5:c.*1206G>A | ENSP00000483657.1:n.*1206G>A | |
| ENST00000613445.5:c.*1206G>A | ENSP00000477672.1:n.*1206G>A | |
| ENST00000624112.2:n.5828G>A | ||
| ENST00000679784.1:c.*2747G>A | ENSP00000506030.1:n.*2747G>A | |
| ENST00000679852.1:c.1645G>A | ||
| ENST00000679958.1:c.*1328G>A | ENSP00000505246.1:n.*1328G>A | |
| ENST00000679983.1:c.*1206G>A | ENSP00000505238.1:n.*1206G>A | |
| ENST00000679992.1:c.*1206G>A | ENSP00000506585.1:n.*1206G>A | |
| ENST00000680048.1:c.*3328G>A | ENSP00000505296.1:n.*3328G>A | |
| ENST00000680125.1:c.*1206G>A | ENSP00000506424.1:n.*1206G>A | |
| ENST00000680232.1:c.*1206G>A | ENSP00000506207.1:n.*1206G>A | |
| ENST00000680318.1:c.*1206G>A | ENSP00000505057.1:n.*1206G>A | |
| ENST00000680568.1:n.2063G>A | ||
| ENST00000680655.1:c.*2547G>A | ENSP00000506436.1:n.*2547G>A | |
| ENST00000680876.1:n.6016G>A | ||
| ENST00000680878.1:n.5881G>A | ||
| ENST00000681633.1:n.5643G>A | ||
| ENST00000681926.1:c.*1206G>A | ENSP00000505850.1:n.*1206G>A | |
| ENST00000265113.8:c.*1206G>A | ENSP00000265113.4:n.*1206G>A | |
| ENST00000381918.3:c.*1206G>A | ENSP00000371343.3:n.*1206G>A | |
| ENST00000612708.4:c.*1206G>A | ENSP00000483657.1:n.*1206G>A | |
| ENST00000613445.4:c.*1206G>A | ENSP00000477672.1:n.*1206G>A | |
| NM_001166695.2:c.*1206G>A | NP_001160167.1:n.*1206G>A | |
| NM_001289939.1:c.*1206G>A | NP_001276868.1:n.*1206G>A | |
| NM_001289940.1:c.*1206G>A | NP_001276869.1:n.*1206G>A | |
| NM_004172.4:c.*1206G>A | NP_004163.3:n.*1206G>A | |
| XM_005248342.1:c.*1206G>A | XP_005248399.1:n.*1206G>A | |
| XM_011514084.1:c.*1206G>A | XP_011512386.1:n.*1206G>A | |
| XM_005248342.3:c.*1206G>A | XP_005248399.1:n.*1206G>A | |
| XM_011514084.2:c.*1206G>A | XP_011512386.1:n.*1206G>A | |
| XM_024446181.1:c.*1206G>A | XP_024301949.1:n.*1206G>A | |
| XM_024446182.1:c.*1206G>A | XP_024301950.1:n.*1206G>A | |
| NM_004172.5:c.*1206G>A MANE Select | NP_004163.3:n.*1206G>A | |
| NM_001166695.3:c.*1206G>A | NP_001160167.1:n.*1206G>A | |
| NM_001289939.2:c.*1206G>A | NP_001276868.1:n.*1206G>A | |
| NM_001289940.2:c.*1206G>A | NP_001276869.1:n.*1206G>A |