Linked Data
ClinVar Variation Id:
299837
ClinVar RCV Id:
RCV000364502
dbSNP Id:
rs539207601
gnomAD v2:
10-27827870-G-A
gnomAD v3:
10-27538941-G-A
gnomAD v4:
10-27538941-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27538941G>A , CM000672.2:g.27538941G>A | GRCh38 |
| NC_000010.10:g.27827870G>A , CM000672.1:g.27827870G>A | GRCh37 |
| NC_000010.9:g.27867876G>A | NCBI36 |
| NG_032035.1:g.39768G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000535776.6:c.*1044G>A | ENSP00000439321.2:n.*1044G>A | |
| ENST00000611151.5:c.*1299G>A | ENSP00000483927.2:n.*1299G>A | |
| ENST00000621805.5:c.*890G>A | ENSP00000478479.1:n.*890G>A | |
| ENST00000682082.1:c.*171+719G>A | ENSP00000507542.1:n.*171+719G>A | |
| ENST00000682173.1:c.1189G>A | ||
| ENST00000682181.1:c.*1816G>A | ENSP00000507392.1:n.*1816G>A | |
| ENST00000682347.1:c.68-3812G>A | ENSP00000508355.1:n.68-3812G>A | |
| ENST00000682389.1:c.*890G>A | ENSP00000507154.1:n.*890G>A | |
| ENST00000682518.1:n.1526G>A | ||
| ENST00000682668.1:c.1864G>A | ||
| ENST00000682777.1:n.2678G>A | ||
| ENST00000682852.1:c.*1356G>A | ENSP00000508341.1:n.*1356G>A | |
| ENST00000682963.1:c.*890G>A | ENSP00000507532.1:n.*890G>A | |
| ENST00000683030.1:c.150+916G>A | ||
| ENST00000683419.1:c.*1232G>A | ENSP00000508094.1:n.*1232G>A | |
| ENST00000683755.1:c.*1099G>A | ENSP00000506993.1:n.*1099G>A | |
| ENST00000683816.1:c.*1434G>A | ENSP00000507834.1:n.*1434G>A | |
| ENST00000683915.1:c.153+913G>A | ||
| ENST00000684134.1:n.6471G>A | ||
| ENST00000684191.1:c.68-3061G>A | ENSP00000508185.1:n.68-3061G>A | |
| ENST00000684393.1:c.*1816G>A | ENSP00000507136.1:n.*1816G>A | |
| ENST00000684457.1:c.150+916G>A | ||
| ENST00000356940.11:c.*890G>A MANE Select | ENSP00000349415.7:n.*890G>A | |
| ENST00000356940.10:c.*890G>A | ENSP00000349415.6:n.*890G>A | |
| ENST00000535776.5:c.*890G>A | ENSP00000439321.1:n.*890G>A | |
| ENST00000611151.4:c.*890G>A | ENSP00000483927.1:n.*890G>A | |
| ENST00000621805.4:c.1598G>A | ENSP00000478479.1:n.1598G>A | |
| NM_001256410.1:c.*890G>A | NP_001243339.1:n.*890G>A | |
| NM_001256411.1:c.*850G>A | NP_001243340.1:n.*850G>A | |
| NM_001256412.1:c.*890G>A | NP_001243341.1:n.*890G>A | |
| NM_001256415.1:c.*890G>A | NP_001243344.1:n.*890G>A | |
| NM_021252.4:c.*890G>A | NP_067075.1:n.*890G>A | |
| NR_046172.1:n.1645G>A | ||
| NM_001256410.2:c.*890G>A | NP_001243339.1:n.*890G>A | |
| NM_001256411.2:c.*850G>A | NP_001243340.1:n.*850G>A | |
| NM_001256412.2:c.*890G>A | NP_001243341.1:n.*890G>A | |
| NM_001256415.2:c.*890G>A | NP_001243344.1:n.*890G>A | |
| NM_021252.5:c.*890G>A MANE Select | NP_067075.1:n.*890G>A | |
| NR_046172.2:n.1515G>A |