Linked Data
ClinVar Variation Id:
130059
dbSNP Id:
rs11015859
ExAC:
10:27826951 G / A
gnomAD v2:
10-27826951-G-A
gnomAD v3:
10-27538022-G-A
gnomAD v4:
10-27538022-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27538022G>A , CM000672.2:g.27538022G>A | GRCh38 |
| NC_000010.10:g.27826951G>A , CM000672.1:g.27826951G>A | GRCh37 |
| NC_000010.9:g.27866957G>A | NCBI36 |
| NG_032035.1:g.38849G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000535776.6:c.*125G>A | ENSP00000439321.2:n.*125G>A | |
| ENST00000611151.5:c.*380G>A | ENSP00000483927.2:n.*380G>A | |
| ENST00000621805.5:c.679G>A | ENSP00000478479.1:p.Ala227Thr | |
| ENST00000682082.1:c.592G>A | ENSP00000507542.1:p.Ala198Thr | |
| ENST00000682173.1:c.270G>A | ||
| ENST00000682181.1:c.*897G>A | ENSP00000507392.1:n.*897G>A | |
| ENST00000682347.1:c.67+4028G>A | ENSP00000508355.1:n.67+4028G>A | |
| ENST00000682389.1:c.400G>A | ENSP00000507154.1:p.Ala134Thr | |
| ENST00000682518.1:n.607G>A | ||
| ENST00000682668.1:c.945G>A | ||
| ENST00000682777.1:n.1759G>A | ||
| ENST00000682852.1:c.*437G>A | ENSP00000508341.1:n.*437G>A | |
| ENST00000682963.1:c.241G>A | ENSP00000507532.1:p.Ala81Thr | |
| ENST00000683030.1:c.147G>A | ||
| ENST00000683042.1:n.750G>A | ||
| ENST00000683385.1:n.499G>A | ||
| ENST00000683419.1:c.*313G>A | ENSP00000508094.1:n.*313G>A | |
| ENST00000683446.1:n.525G>A | ||
| ENST00000683538.1:c.949G>A | ||
| ENST00000683755.1:c.*180G>A | ENSP00000506993.1:n.*180G>A | |
| ENST00000683816.1:c.*515G>A | ENSP00000507834.1:n.*515G>A | |
| ENST00000683915.1:c.147G>A | ||
| ENST00000683924.1:c.380G>A | ENSP00000507963.1:n.380G>A | |
| ENST00000684134.1:n.5552G>A | ||
| ENST00000684191.1:c.68-3980G>A | ENSP00000508185.1:n.68-3980G>A | |
| ENST00000684393.1:c.*897G>A | ENSP00000507136.1:n.*897G>A | |
| ENST00000684457.1:c.147G>A | ||
| ENST00000684501.1:c.525G>A | ENSP00000507589.1:p.Glu175= | |
| ENST00000356940.11:c.592G>A MANE Select | ENSP00000349415.7:p.Ala198Thr | |
| ENST00000356940.10:c.592G>A | ENSP00000349415.6:p.Ala198Thr | |
| ENST00000375802.7:c.457G>A | ENSP00000364960.3:p.Ala153Thr | |
| ENST00000465772.5:n.518G>A | ||
| ENST00000535776.5:c.400G>A | ENSP00000439321.1:p.Ala134Thr | |
| ENST00000611151.4:c.520G>A | ENSP00000483927.1:p.Ala174Thr | |
| ENST00000621805.4:c.679G>A | ENSP00000478479.1:p.Ala227Thr | |
| NM_001256410.1:c.679G>A | NP_001243339.1:p.Ala227Thr | |
| NM_001256411.1:c.525G>A | NP_001243340.1:p.Glu175= | |
| NM_001256412.1:c.400G>A | NP_001243341.1:p.Ala134Thr | |
| NM_001256415.1:c.520G>A | NP_001243344.1:p.Ala174Thr | |
| NM_021252.4:c.592G>A | NP_067075.1:p.Ala198Thr | |
| NR_046172.1:n.726G>A | ||
| NM_001256410.2:c.679G>A | NP_001243339.1:p.Ala227Thr | |
| NM_001256411.2:c.525G>A | NP_001243340.1:p.Glu175= | |
| NM_001256412.2:c.400G>A | NP_001243341.1:p.Ala134Thr | |
| NM_001256415.2:c.520G>A | NP_001243344.1:p.Ala174Thr | |
| NM_021252.5:c.592G>A MANE Select | NP_067075.1:p.Ala198Thr | |
| NR_046172.2:n.596G>A |