Linked Data
ClinVar Variation Id:
299817
dbSNP Id:
rs750139202
ExAC:
10:27822674 C / A
gnomAD v2:
10-27822674-C-A
gnomAD v3:
10-27533745-C-A
gnomAD v4:
10-27533745-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27533745C>A , CM000672.2:g.27533745C>A | GRCh38 |
| NC_000010.10:g.27822674C>A , CM000672.1:g.27822674C>A | GRCh37 |
| NC_000010.9:g.27862680C>A | NCBI36 |
| NG_032035.1:g.34572C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423465.2:c.96C>A | ENSP00000407872.2:p.Val32= | |
| ENST00000535776.6:c.357C>A | ENSP00000439321.2:p.Val119= | |
| ENST00000611151.5:c.*58C>A | ENSP00000483927.2:n.*58C>A | |
| ENST00000621805.5:c.357C>A | ENSP00000478479.1:p.Val119= | |
| ENST00000682082.1:c.270C>A | ENSP00000507542.1:p.Val90= | |
| ENST00000682138.1:n.5805C>A | ||
| ENST00000682173.1:c.57-183C>A | ||
| ENST00000682181.1:c.*575C>A | ENSP00000507392.1:n.*575C>A | |
| ENST00000682389.1:c.187-183C>A | ENSP00000507154.1:n.187-183C>A | |
| ENST00000682518.1:n.211C>A | ||
| ENST00000682668.1:c.623C>A | ||
| ENST00000682777.1:n.1363C>A | ||
| ENST00000682852.1:c.*115C>A | ENSP00000508341.1:n.*115C>A | |
| ENST00000682963.1:c.-82C>A | ENSP00000507532.1:n.-82C>A | |
| ENST00000683042.1:n.354C>A | ||
| ENST00000683088.1:n.312C>A | ||
| ENST00000683385.1:n.103C>A | ||
| ENST00000683419.1:c.*58C>A | ENSP00000508094.1:n.*58C>A | |
| ENST00000683446.1:n.203C>A | ||
| ENST00000683538.1:c.623C>A | ||
| ENST00000683755.1:c.270C>A | ENSP00000506993.1:p.Val90= | |
| ENST00000683797.1:c.-82C>A | ENSP00000508179.1:n.-82C>A | |
| ENST00000683816.1:c.*302-183C>A | ENSP00000507834.1:n.*302-183C>A | |
| ENST00000683866.1:c.73C>A | ||
| ENST00000683924.1:c.54C>A | ENSP00000507963.1:p.Val18= | |
| ENST00000684134.1:n.5230C>A | ||
| ENST00000684393.1:c.*575C>A | ENSP00000507136.1:n.*575C>A | |
| ENST00000684501.1:c.270C>A | ENSP00000507589.1:p.Val90= | |
| ENST00000356940.11:c.270C>A MANE Select | ENSP00000349415.7:p.Val90= | |
| ENST00000356940.10:c.270C>A | ENSP00000349415.6:p.Val90= | |
| ENST00000375802.7:c.135C>A | ENSP00000364960.3:p.Val45= | |
| ENST00000423465.1:c.607C>A | ||
| ENST00000465772.5:n.263C>A | ||
| ENST00000535776.5:c.187-183C>A | ENSP00000439321.1:n.187-183C>A | |
| ENST00000611151.4:c.198C>A | ENSP00000483927.1:p.Val66= | |
| ENST00000621805.4:c.357C>A | ENSP00000478479.1:p.Val119= | |
| NM_001256410.1:c.357C>A | NP_001243339.1:p.Val119= | |
| NM_001256411.1:c.270C>A | NP_001243340.1:p.Val90= | |
| NM_001256412.1:c.187-183C>A | NP_001243341.1:n.187-183C>A | |
| NM_001256415.1:c.198C>A | NP_001243344.1:p.Val66= | |
| NM_021252.4:c.270C>A | NP_067075.1:p.Val90= | |
| NR_046172.1:n.404C>A | ||
| NM_001256410.2:c.357C>A | NP_001243339.1:p.Val119= | |
| NM_001256411.2:c.270C>A | NP_001243340.1:p.Val90= | |
| NM_001256412.2:c.187-183C>A | NP_001243341.1:n.187-183C>A | |
| NM_001256415.2:c.198C>A | NP_001243344.1:p.Val66= | |
| NM_021252.5:c.270C>A MANE Select | NP_067075.1:p.Val90= | |
| NR_046172.2:n.274C>A |