Linked Data
ClinVar Variation Id:
9442
ClinVar RCV Id:
RCV000010049
dbSNP Id:
rs137852620
gnomAD v4:
5-36674080-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36674080T>A , CM000667.2:g.36674080T>A | GRCh38 |
| NC_000005.9:g.36674182T>A , CM000667.1:g.36674182T>A | GRCh37 |
| NC_000005.8:g.36709939T>A | NCBI36 |
| NG_015890.1:g.72726T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265113.9:c.556T>A MANE Select | ENSP00000265113.4:p.Cys186Ser | |
| ENST00000381918.4:c.556T>A | ENSP00000371343.4:p.Cys186Ser | |
| ENST00000612708.5:c.524+2847T>A | ENSP00000483657.1:n.524+2847T>A | |
| ENST00000613445.5:c.418T>A | ENSP00000477672.1:p.Cys140Ser | |
| ENST00000624112.2:n.3549T>A | ||
| ENST00000679423.1:c.*218T>A | ENSP00000505306.1:n.*218T>A | |
| ENST00000679487.1:c.32T>A | ||
| ENST00000679784.1:c.*468T>A | ENSP00000506030.1:n.*468T>A | |
| ENST00000679958.1:c.320-11985T>A | ENSP00000505246.1:n.320-11985T>A | |
| ENST00000679983.1:c.556T>A | ENSP00000505238.1:p.Cys186Ser | |
| ENST00000679992.1:c.556T>A | ENSP00000506585.1:p.Cys186Ser | |
| ENST00000680048.1:c.*1049T>A | ENSP00000505296.1:n.*1049T>A | |
| ENST00000680064.1:n.922T>A | ||
| ENST00000680125.1:c.556T>A | ENSP00000506424.1:p.Cys186Ser | |
| ENST00000680205.1:n.922T>A | ||
| ENST00000680232.1:c.556T>A | ENSP00000506207.1:p.Cys186Ser | |
| ENST00000680318.1:c.556T>A | ENSP00000505057.1:p.Cys186Ser | |
| ENST00000680655.1:c.*268T>A | ENSP00000506436.1:n.*268T>A | |
| ENST00000680711.1:n.764T>A | ||
| ENST00000680835.1:c.32T>A | ||
| ENST00000680876.1:n.3737T>A | ||
| ENST00000680878.1:n.3737T>A | ||
| ENST00000681440.1:c.32T>A | ||
| ENST00000681633.1:n.922T>A | ||
| ENST00000681701.1:c.206-2812T>A | ||
| ENST00000681814.1:n.671T>A | ||
| ENST00000681909.1:c.418T>A | ENSP00000506599.1:p.Cys140Ser | |
| ENST00000681926.1:c.556T>A | ENSP00000505850.1:p.Cys186Ser | |
| ENST00000265113.8:c.556T>A | ENSP00000265113.4:p.Cys186Ser | |
| ENST00000381918.3:c.556T>A | ENSP00000371343.3:p.Cys186Ser | |
| ENST00000505376.1:n.320T>A | ||
| ENST00000612708.4:c.524+2847T>A | ENSP00000483657.1:n.524+2847T>A | |
| ENST00000613445.4:c.418T>A | ENSP00000477672.1:p.Cys140Ser | |
| NM_001166695.2:c.556T>A | NP_001160167.1:p.Cys186Ser | |
| NM_001289939.1:c.418T>A | NP_001276868.1:p.Cys140Ser | |
| NM_001289940.1:c.524+2847T>A | NP_001276869.1:n.524+2847T>A | |
| NM_004172.4:c.556T>A | NP_004163.3:p.Cys186Ser | |
| XM_005248342.1:c.556T>A | XP_005248399.1:p.Cys186Ser | |
| XM_011514084.1:c.235T>A | XP_011512386.1:p.Cys79Ser | |
| XM_005248342.3:c.556T>A | XP_005248399.1:p.Cys186Ser | |
| XM_011514084.2:c.235T>A | XP_011512386.1:p.Cys79Ser | |
| XM_024446181.1:c.556T>A | XP_024301949.1:p.Cys186Ser | |
| XM_024446182.1:c.556T>A | XP_024301950.1:p.Cys186Ser | |
| NM_004172.5:c.556T>A MANE Select | NP_004163.3:p.Cys186Ser | |
| NM_001166695.3:c.556T>A | NP_001160167.1:p.Cys186Ser | |
| NM_001289939.2:c.418T>A | NP_001276868.1:p.Cys140Ser | |
| NM_001289940.2:c.524+2847T>A | NP_001276869.1:n.524+2847T>A |