Linked Data
ClinVar Variation Id:
2725977
ClinVar RCV Id:
RCV003554749
dbSNP Id:
rs551297694
ExAC:
3:193355782 G / A
gnomAD v2:
3-193355782-G-A
gnomAD v3:
3-193637993-G-A
gnomAD v4:
3-193637993-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193637993G>A , CM000665.2:g.193637993G>A | GRCh38 |
| NC_000003.11:g.193355782G>A , CM000665.1:g.193355782G>A | GRCh37 |
| NC_000003.10:g.194838476G>A | NCBI36 |
| NG_011605.1:g.49850G>A , LRG_337:g.49850G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.1077G>A MANE Select | ENSP00000355324.2:p.Val359= | |
| ENST00000361828.7:c.912G>A | ENSP00000354429.3:p.Val304= | |
| ENST00000361908.8:c.1023G>A | ENSP00000354681.3:p.Val341= | |
| ENST00000392436.7:c.912G>A | ENSP00000376231.3:p.Val304= | |
| ENST00000392437.6:c.966G>A | ENSP00000376232.2:p.Val322= | |
| ENST00000642289.1:c.1007G>A | ||
| ENST00000642445.1:c.912G>A | ENSP00000495535.1:p.Val304= | |
| ENST00000642593.1:c.912G>A | ENSP00000494273.1:p.Val304= | |
| ENST00000643329.1:c.594G>A | ENSP00000493673.1:p.Val198= | |
| ENST00000643737.1:c.*993G>A | ENSP00000494210.1:n.*993G>A | |
| ENST00000644595.1:c.912G>A | ENSP00000494121.1:p.Val304= | |
| ENST00000644629.1:c.572G>A | ||
| ENST00000644841.1:c.540G>A | ENSP00000493988.1:p.Val180= | |
| ENST00000644959.1:c.881G>A | ||
| ENST00000645553.1:c.927G>A | ENSP00000494725.1:p.Val309= | |
| ENST00000646085.1:c.*390G>A | ENSP00000494509.1:n.*390G>A | |
| ENST00000646277.1:c.1077G>A | ENSP00000495289.1:p.Val359= | |
| ENST00000646699.1:c.1007G>A | ||
| ENST00000646793.1:c.804G>A | ENSP00000494512.1:p.Val268= | |
| ENST00000361150.6:c.915G>A | ENSP00000354781.2:p.Val305= | |
| ENST00000361510.6:c.1077G>A | ENSP00000355324.2:p.Val359= | |
| ENST00000361715.6:c.969G>A | ENSP00000355311.2:p.Val323= | |
| ENST00000361828.6:c.966G>A | ENSP00000354429.2:p.Val322= | |
| ENST00000361908.7:c.1023G>A | ENSP00000354681.3:p.Val341= | |
| ENST00000392438.7:c.912G>A | ENSP00000376233.3:p.Val304= | |
| ENST00000475899.1:n.108G>A | ||
| ENST00000495476.1:n.433G>A | ||
| ENST00000497189.5:n.398G>A | ||
| NM_015560.2:c.912G>A , LRG_337t1:c.912G>A | NP_056375.2:p.Val304= | |
| NM_130831.2:c.804G>A | NP_570844.1:p.Val268= | |
| NM_130832.2:c.858G>A | NP_570845.1:p.Val286= | |
| NM_130833.2:c.915G>A | NP_570846.1:p.Val305= | |
| NM_130834.2:c.966G>A | NP_570847.2:p.Val322= | |
| NM_130835.2:c.969G>A | NP_570848.1:p.Val323= | |
| NM_130836.2:c.1023G>A | NP_570849.2:p.Val341= | |
| NM_130837.2:c.1077G>A , LRG_337t2:c.1077G>A | NP_570850.2:p.Val359= | |
| XM_011512863.1:c.1077G>A | XP_011511165.1:p.Val359= | |
| XM_011512864.1:c.1023G>A | XP_011511166.1:p.Val341= | |
| XM_011512865.1:c.966G>A | XP_011511167.1:p.Val322= | |
| XM_011512866.1:c.915G>A | XP_011511168.1:p.Val305= | |
| XM_011512867.1:c.912G>A | XP_011511169.1:p.Val304= | |
| XM_011512868.1:c.804G>A | XP_011511170.1:p.Val268= | |
| XM_011512869.1:c.1077G>A | XP_011511171.1:p.Val359= | |
| NM_001354663.1:c.543G>A | NP_001341592.1:p.Val181= | |
| NM_001354664.1:c.540G>A | NP_001341593.1:p.Val180= | |
| XR_001740158.2:n.1306G>A | ||
| XR_001740159.2:n.1141G>A | ||
| NM_001354663.2:c.543G>A | NP_001341592.1:p.Val181= | |
| NM_001354664.2:c.540G>A | NP_001341593.1:p.Val180= | |
| NM_130831.3:c.804G>A | NP_570844.1:p.Val268= | |
| NM_130832.3:c.858G>A | NP_570845.1:p.Val286= | |
| NM_130834.3:c.966G>A | NP_570847.2:p.Val322= | |
| NM_130836.3:c.1023G>A | NP_570849.2:p.Val341= | |
| NM_015560.3:c.912G>A | NP_056375.2:p.Val304= | |
| NM_130833.3:c.915G>A | NP_570846.1:p.Val305= | |
| NM_130835.3:c.969G>A | NP_570848.1:p.Val323= | |
| NM_130837.3:c.1077G>A MANE Select | NP_570850.2:p.Val359= |