Linked Data
ClinVar Variation Id:
95713
ClinVar RCV Id:
RCV000081753
dbSNP Id:
rs398124299
ExAC:
3:193364933 C / T
gnomAD v2:
3-193364933-C-T
gnomAD v4:
3-193647144-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193647144C>T , CM000665.2:g.193647144C>T | GRCh38 |
| NC_000003.11:g.193364933C>T , CM000665.1:g.193364933C>T | GRCh37 |
| NC_000003.10:g.194847627C>T | NCBI36 |
| NG_011605.1:g.59001C>T , LRG_337:g.59001C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.1834C>T MANE Select | ENSP00000355324.2:p.Arg612Ter | |
| ENST00000361828.7:c.1669C>T | ENSP00000354429.3:p.Arg557Ter | |
| ENST00000361908.8:c.1780C>T | ENSP00000354681.3:p.Arg594Ter | |
| ENST00000392436.7:c.1669C>T | ENSP00000376231.3:p.Arg557Ter | |
| ENST00000392437.6:c.1723C>T | ENSP00000376232.2:p.Arg575Ter | |
| ENST00000642289.1:c.1608C>T | ||
| ENST00000642445.1:c.1669C>T | ENSP00000495535.1:p.Arg557Ter | |
| ENST00000642593.1:c.1669C>T | ENSP00000494273.1:p.Arg557Ter | |
| ENST00000643329.1:c.1351C>T | ENSP00000493673.1:p.Arg451Ter | |
| ENST00000643737.1:c.*1750C>T | ENSP00000494210.1:n.*1750C>T | |
| ENST00000644595.1:c.1669C>T | ENSP00000494121.1:p.Arg557Ter | |
| ENST00000644629.1:c.1256C>T | ||
| ENST00000644841.1:c.*153C>T | ENSP00000493988.1:n.*153C>T | |
| ENST00000644959.1:c.1638C>T | ||
| ENST00000645553.1:c.1684C>T | ENSP00000494725.1:p.Arg562Ter | |
| ENST00000646085.1:c.*1147C>T | ENSP00000494509.1:n.*1147C>T | |
| ENST00000646277.1:c.*270C>T | ENSP00000495289.1:n.*270C>T | |
| ENST00000646544.1:c.657C>T | ||
| ENST00000646699.1:c.1608C>T | ||
| ENST00000646793.1:c.1561C>T | ENSP00000494512.1:p.Arg521Ter | |
| ENST00000361150.6:c.1672C>T | ENSP00000354781.2:p.Arg558Ter | |
| ENST00000361510.6:c.1834C>T | ENSP00000355324.2:p.Arg612Ter | |
| ENST00000361715.6:c.1726C>T | ENSP00000355311.2:p.Arg576Ter | |
| ENST00000361828.6:c.1723C>T | ENSP00000354429.2:p.Arg575Ter | |
| ENST00000361908.7:c.1780C>T | ENSP00000354681.3:p.Arg594Ter | |
| ENST00000392438.7:c.1669C>T | ENSP00000376233.3:p.Arg557Ter | |
| ENST00000483516.1:n.167C>T | ||
| NM_015560.2:c.1669C>T , LRG_337t1:c.1669C>T | NP_056375.2:p.Arg557Ter | |
| NM_130831.2:c.1561C>T | NP_570844.1:p.Arg521Ter | |
| NM_130832.2:c.1615C>T | NP_570845.1:p.Arg539Ter | |
| NM_130833.2:c.1672C>T | NP_570846.1:p.Arg558Ter | |
| NM_130834.2:c.1723C>T | NP_570847.2:p.Arg575Ter | |
| NM_130835.2:c.1726C>T | NP_570848.1:p.Arg576Ter | |
| NM_130836.2:c.1780C>T | NP_570849.2:p.Arg594Ter | |
| NM_130837.2:c.1834C>T , LRG_337t2:c.1834C>T | NP_570850.2:p.Arg612Ter | |
| XM_011512863.1:c.1834C>T | XP_011511165.1:p.Arg612Ter | |
| XM_011512864.1:c.1780C>T | XP_011511166.1:p.Arg594Ter | |
| XM_011512865.1:c.1723C>T | XP_011511167.1:p.Arg575Ter | |
| XM_011512866.1:c.1672C>T | XP_011511168.1:p.Arg558Ter | |
| XM_011512867.1:c.1669C>T | XP_011511169.1:p.Arg557Ter | |
| XM_011512868.1:c.1561C>T | XP_011511170.1:p.Arg521Ter | |
| XM_011512869.1:c.1834C>T | XP_011511171.1:p.Arg612Ter | |
| NM_001354663.1:c.1300C>T | NP_001341592.1:p.Arg434Ter | |
| NM_001354664.1:c.1297C>T | NP_001341593.1:p.Arg433Ter | |
| XR_001740158.2:n.2063C>T | ||
| XR_001740159.2:n.1898C>T | ||
| NM_001354663.2:c.1300C>T | NP_001341592.1:p.Arg434Ter | |
| NM_001354664.2:c.1297C>T | NP_001341593.1:p.Arg433Ter | |
| NM_130831.3:c.1561C>T | NP_570844.1:p.Arg521Ter | |
| NM_130832.3:c.1615C>T | NP_570845.1:p.Arg539Ter | |
| NM_130834.3:c.1723C>T | NP_570847.2:p.Arg575Ter | |
| NM_130836.3:c.1780C>T | NP_570849.2:p.Arg594Ter | |
| NM_015560.3:c.1669C>T | NP_056375.2:p.Arg557Ter | |
| NM_130833.3:c.1672C>T | NP_570846.1:p.Arg558Ter | |
| NM_130835.3:c.1726C>T | NP_570848.1:p.Arg576Ter | |
| NM_130837.3:c.1834C>T MANE Select | NP_570850.2:p.Arg612Ter |