Linked Data
ClinVar Variation Id:
353320
dbSNP Id:
rs200243548
ExAC:
5:36679853 G / A
gnomAD v2:
5-36679853-G-A
gnomAD v3:
5-36679751-G-A
gnomAD v4:
5-36679751-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36679751G>A , CM000667.2:g.36679751G>A | GRCh38 |
| NC_000005.9:g.36679853G>A , CM000667.1:g.36679853G>A | GRCh37 |
| NC_000005.8:g.36715610G>A | NCBI36 |
| NG_015890.1:g.78397G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265113.9:c.985G>A MANE Select | ENSP00000265113.4:p.Ala329Thr | |
| ENST00000381918.4:c.985G>A | ENSP00000371343.4:p.Ala329Thr | |
| ENST00000612708.5:c.649G>A | ENSP00000483657.1:p.Ala217Thr | |
| ENST00000613445.5:c.847G>A | ENSP00000477672.1:p.Ala283Thr | |
| ENST00000624112.2:n.3978G>A | ||
| ENST00000679384.1:n.125G>A | ||
| ENST00000679487.1:c.44-4G>A | ||
| ENST00000679784.1:c.*897G>A | ENSP00000506030.1:n.*897G>A | |
| ENST00000679852.1:c.125G>A | ||
| ENST00000679958.1:c.320-6314G>A | ENSP00000505246.1:n.320-6314G>A | |
| ENST00000679983.1:c.985G>A | ENSP00000505238.1:p.Ala329Thr | |
| ENST00000679992.1:c.985G>A | ENSP00000506585.1:p.Ala329Thr | |
| ENST00000680048.1:c.*1478G>A | ENSP00000505296.1:n.*1478G>A | |
| ENST00000680064.1:n.3793G>A | ||
| ENST00000680125.1:c.985G>A | ENSP00000506424.1:p.Ala329Thr | |
| ENST00000680232.1:c.1126G>A | ENSP00000506207.1:p.Ala376Thr | |
| ENST00000680318.1:c.985G>A | ENSP00000505057.1:p.Ala329Thr | |
| ENST00000680369.1:c.125G>A | ||
| ENST00000680655.1:c.*697G>A | ENSP00000506436.1:n.*697G>A | |
| ENST00000680835.1:c.168G>A | ||
| ENST00000680876.1:n.4166G>A | ||
| ENST00000680878.1:n.4166G>A | ||
| ENST00000680890.1:c.294-644G>A | ENSP00000505580.1:n.294-644G>A | |
| ENST00000681440.1:c.44-4113G>A | ||
| ENST00000681480.1:c.294-4G>A | ENSP00000506380.1:n.294-4G>A | |
| ENST00000681633.1:n.3793G>A | ||
| ENST00000681701.1:c.623G>A | ||
| ENST00000681814.1:n.1100G>A | ||
| ENST00000681854.1:c.341-4G>A | ENSP00000504899.1:n.341-4G>A | |
| ENST00000681909.1:c.847G>A | ENSP00000506599.1:p.Ala283Thr | |
| ENST00000681926.1:c.985G>A | ENSP00000505850.1:p.Ala329Thr | |
| ENST00000265113.8:c.985G>A | ENSP00000265113.4:p.Ala329Thr | |
| ENST00000381918.3:c.985G>A | ENSP00000371343.3:p.Ala329Thr | |
| ENST00000612708.4:c.649G>A | ENSP00000483657.1:p.Ala217Thr | |
| ENST00000613445.4:c.847G>A | ENSP00000477672.1:p.Ala283Thr | |
| NM_001166695.2:c.985G>A | NP_001160167.1:p.Ala329Thr | |
| NM_001289939.1:c.847G>A | NP_001276868.1:p.Ala283Thr | |
| NM_001289940.1:c.649G>A | NP_001276869.1:p.Ala217Thr | |
| NM_004172.4:c.985G>A | NP_004163.3:p.Ala329Thr | |
| XM_005248342.1:c.985G>A | XP_005248399.1:p.Ala329Thr | |
| XM_011514084.1:c.664G>A | XP_011512386.1:p.Ala222Thr | |
| XM_005248342.3:c.985G>A | XP_005248399.1:p.Ala329Thr | |
| XM_011514084.2:c.664G>A | XP_011512386.1:p.Ala222Thr | |
| XM_024446181.1:c.985G>A | XP_024301949.1:p.Ala329Thr | |
| XM_024446182.1:c.985G>A | XP_024301950.1:p.Ala329Thr | |
| NM_004172.5:c.985G>A MANE Select | NP_004163.3:p.Ala329Thr | |
| NM_001166695.3:c.985G>A | NP_001160167.1:p.Ala329Thr | |
| NM_001289939.2:c.847G>A | NP_001276868.1:p.Ala283Thr | |
| NM_001289940.2:c.649G>A | NP_001276869.1:p.Ala217Thr |