Linked Data
ClinVar Variation Id:
299814
dbSNP Id:
rs61757825
ExAC:
10:27793334 C / A
gnomAD v2:
10-27793334-C-A
gnomAD v3:
10-27504405-C-A
gnomAD v4:
10-27504405-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27504405C>A , CM000672.2:g.27504405C>A | GRCh38 |
| NC_000010.10:g.27793334C>A , CM000672.1:g.27793334C>A | GRCh37 |
| NC_000010.9:g.27833340C>A | NCBI36 |
| NG_032035.1:g.5232C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484281.2:n.36C>A | ||
| ENST00000535776.6:c.36C>A | ENSP00000439321.2:p.Leu12= | |
| ENST00000611151.5:c.36C>A | ENSP00000483927.2:p.Leu12= | |
| ENST00000621805.5:c.36C>A | ENSP00000478479.1:p.Leu12= | |
| ENST00000682082.1:c.36C>A | ENSP00000507542.1:p.Leu12= | |
| ENST00000682181.1:c.36C>A | ENSP00000507392.1:p.Leu12= | |
| ENST00000682368.1:n.102C>A | ||
| ENST00000682389.1:c.36C>A | ENSP00000507154.1:p.Leu12= | |
| ENST00000682518.1:n.112C>A | ||
| ENST00000682668.1:c.23C>A | ||
| ENST00000682852.1:c.36C>A | ENSP00000508341.1:p.Leu12= | |
| ENST00000682963.1:c.-125C>A | ENSP00000507532.1:n.-125C>A | |
| ENST00000683042.1:n.120C>A | ||
| ENST00000683419.1:c.36C>A | ENSP00000508094.1:p.Leu12= | |
| ENST00000683538.1:c.23C>A | ||
| ENST00000683755.1:c.36C>A | ENSP00000506993.1:p.Leu12= | |
| ENST00000683797.1:c.-327C>A | ENSP00000508179.1:n.-327C>A | |
| ENST00000683816.1:c.36C>A | ENSP00000507834.1:p.Leu12= | |
| ENST00000684393.1:c.36C>A | ENSP00000507136.1:p.Leu12= | |
| ENST00000684501.1:c.36C>A | ENSP00000507589.1:p.Leu12= | |
| ENST00000684744.1:n.102C>A | ||
| ENST00000356940.11:c.36C>A MANE Select | ENSP00000349415.7:p.Leu12= | |
| ENST00000356940.10:c.36C>A | ENSP00000349415.6:p.Leu12= | |
| ENST00000375802.7:c.36C>A | ENSP00000364960.3:p.Leu12= | |
| ENST00000465772.5:n.29C>A | ||
| ENST00000484281.1:n.12C>A | ||
| ENST00000490236.2:n.107C>A | ||
| ENST00000535776.5:c.36C>A | ENSP00000439321.1:p.Leu12= | |
| ENST00000611151.4:c.36C>A | ENSP00000483927.1:p.Leu12= | |
| ENST00000621805.4:c.36C>A | ENSP00000478479.1:p.Leu12= | |
| NM_001256410.1:c.36C>A | NP_001243339.1:p.Leu12= | |
| NM_001256411.1:c.36C>A | NP_001243340.1:p.Leu12= | |
| NM_001256412.1:c.36C>A | NP_001243341.1:p.Leu12= | |
| NM_001256415.1:c.36C>A | NP_001243344.1:p.Leu12= | |
| NM_021252.4:c.36C>A | NP_067075.1:p.Leu12= | |
| NR_046172.1:n.232C>A | ||
| NM_001256410.2:c.36C>A | NP_001243339.1:p.Leu12= | |
| NM_001256411.2:c.36C>A | NP_001243340.1:p.Leu12= | |
| NM_001256412.2:c.36C>A | NP_001243341.1:p.Leu12= | |
| NM_001256415.2:c.36C>A | NP_001243344.1:p.Leu12= | |
| NM_021252.5:c.36C>A MANE Select | NP_067075.1:p.Leu12= | |
| NR_046172.2:n.102C>A |