Linked Data
ClinVar Variation Id:
452064
ClinVar RCV Id:
RCV000519220
dbSNP Id:
rs949979832
gnomAD v2:
3-193364937-A-C
gnomAD v4:
3-193647148-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193647148A>C , CM000665.2:g.193647148A>C | GRCh38 |
| NC_000003.11:g.193364937A>C , CM000665.1:g.193364937A>C | GRCh37 |
| NC_000003.10:g.194847631A>C | NCBI36 |
| NG_011605.1:g.59005A>C , LRG_337:g.59005A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.1838A>C MANE Select | ENSP00000355324.2:p.Glu613Ala | |
| ENST00000361828.7:c.1673A>C | ENSP00000354429.3:p.Glu558Ala | |
| ENST00000361908.8:c.1784A>C | ENSP00000354681.3:p.Glu595Ala | |
| ENST00000392436.7:c.1673A>C | ENSP00000376231.3:p.Glu558Ala | |
| ENST00000392437.6:c.1727A>C | ENSP00000376232.2:p.Glu576Ala | |
| ENST00000642289.1:c.1612A>C | ||
| ENST00000642445.1:c.1673A>C | ENSP00000495535.1:p.Glu558Ala | |
| ENST00000642593.1:c.1673A>C | ENSP00000494273.1:p.Glu558Ala | |
| ENST00000643329.1:c.1355A>C | ENSP00000493673.1:p.Glu452Ala | |
| ENST00000643737.1:c.*1754A>C | ENSP00000494210.1:n.*1754A>C | |
| ENST00000644595.1:c.1673A>C | ENSP00000494121.1:p.Glu558Ala | |
| ENST00000644629.1:c.1260A>C | ||
| ENST00000644841.1:c.*157A>C | ENSP00000493988.1:n.*157A>C | |
| ENST00000644959.1:c.1642A>C | ||
| ENST00000645553.1:c.1688A>C | ENSP00000494725.1:p.Glu563Ala | |
| ENST00000646085.1:c.*1151A>C | ENSP00000494509.1:n.*1151A>C | |
| ENST00000646277.1:c.*274A>C | ENSP00000495289.1:n.*274A>C | |
| ENST00000646544.1:c.661A>C | ||
| ENST00000646699.1:c.1612A>C | ||
| ENST00000646793.1:c.1565A>C | ENSP00000494512.1:p.Glu522Ala | |
| ENST00000361150.6:c.1676A>C | ENSP00000354781.2:p.Glu559Ala | |
| ENST00000361510.6:c.1838A>C | ENSP00000355324.2:p.Glu613Ala | |
| ENST00000361715.6:c.1730A>C | ENSP00000355311.2:p.Glu577Ala | |
| ENST00000361828.6:c.1727A>C | ENSP00000354429.2:p.Glu576Ala | |
| ENST00000361908.7:c.1784A>C | ENSP00000354681.3:p.Glu595Ala | |
| ENST00000392438.7:c.1673A>C | ENSP00000376233.3:p.Glu558Ala | |
| ENST00000483516.1:n.171A>C | ||
| NM_015560.2:c.1673A>C , LRG_337t1:c.1673A>C | NP_056375.2:p.Glu558Ala | |
| NM_130831.2:c.1565A>C | NP_570844.1:p.Glu522Ala | |
| NM_130832.2:c.1619A>C | NP_570845.1:p.Glu540Ala | |
| NM_130833.2:c.1676A>C | NP_570846.1:p.Glu559Ala | |
| NM_130834.2:c.1727A>C | NP_570847.2:p.Glu576Ala | |
| NM_130835.2:c.1730A>C | NP_570848.1:p.Glu577Ala | |
| NM_130836.2:c.1784A>C | NP_570849.2:p.Glu595Ala | |
| NM_130837.2:c.1838A>C , LRG_337t2:c.1838A>C | NP_570850.2:p.Glu613Ala | |
| XM_011512863.1:c.1838A>C | XP_011511165.1:p.Glu613Ala | |
| XM_011512864.1:c.1784A>C | XP_011511166.1:p.Glu595Ala | |
| XM_011512865.1:c.1727A>C | XP_011511167.1:p.Glu576Ala | |
| XM_011512866.1:c.1676A>C | XP_011511168.1:p.Glu559Ala | |
| XM_011512867.1:c.1673A>C | XP_011511169.1:p.Glu558Ala | |
| XM_011512868.1:c.1565A>C | XP_011511170.1:p.Glu522Ala | |
| XM_011512869.1:c.1838A>C | XP_011511171.1:p.Glu613Ala | |
| NM_001354663.1:c.1304A>C | NP_001341592.1:p.Glu435Ala | |
| NM_001354664.1:c.1301A>C | NP_001341593.1:p.Glu434Ala | |
| XR_001740158.2:n.2067A>C | ||
| XR_001740159.2:n.1902A>C | ||
| NM_001354663.2:c.1304A>C | NP_001341592.1:p.Glu435Ala | |
| NM_001354664.2:c.1301A>C | NP_001341593.1:p.Glu434Ala | |
| NM_130831.3:c.1565A>C | NP_570844.1:p.Glu522Ala | |
| NM_130832.3:c.1619A>C | NP_570845.1:p.Glu540Ala | |
| NM_130834.3:c.1727A>C | NP_570847.2:p.Glu576Ala | |
| NM_130836.3:c.1784A>C | NP_570849.2:p.Glu595Ala | |
| NM_015560.3:c.1673A>C | NP_056375.2:p.Glu558Ala | |
| NM_130833.3:c.1676A>C | NP_570846.1:p.Glu559Ala | |
| NM_130835.3:c.1730A>C | NP_570848.1:p.Glu577Ala | |
| NM_130837.3:c.1838A>C MANE Select | NP_570850.2:p.Glu613Ala |