Linked Data
dbSNP Id:
rs765073068
ExAC:
3:193364886 C / T
gnomAD v2:
3-193364886-C-T
gnomAD v4:
3-193647097-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193647097C>T , CM000665.2:g.193647097C>T | GRCh38 |
| NC_000003.11:g.193364886C>T , CM000665.1:g.193364886C>T | GRCh37 |
| NC_000003.10:g.194847580C>T | NCBI36 |
| NG_011605.1:g.58954C>T , LRG_337:g.58954C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.1787C>T MANE Select | ENSP00000355324.2:p.Thr596Ile | |
| ENST00000361828.7:c.1622C>T | ENSP00000354429.3:p.Thr541Ile | |
| ENST00000361908.8:c.1733C>T | ENSP00000354681.3:p.Thr578Ile | |
| ENST00000392436.7:c.1622C>T | ENSP00000376231.3:p.Thr541Ile | |
| ENST00000392437.6:c.1676C>T | ENSP00000376232.2:p.Thr559Ile | |
| ENST00000642289.1:c.1561C>T | ||
| ENST00000642445.1:c.1622C>T | ENSP00000495535.1:p.Thr541Ile | |
| ENST00000642593.1:c.1622C>T | ENSP00000494273.1:p.Thr541Ile | |
| ENST00000643329.1:c.1304C>T | ENSP00000493673.1:p.Thr435Ile | |
| ENST00000643737.1:c.*1703C>T | ENSP00000494210.1:n.*1703C>T | |
| ENST00000644595.1:c.1622C>T | ENSP00000494121.1:p.Thr541Ile | |
| ENST00000644629.1:c.1209C>T | ||
| ENST00000644841.1:c.*106C>T | ENSP00000493988.1:n.*106C>T | |
| ENST00000644959.1:c.1591C>T | ||
| ENST00000645553.1:c.1637C>T | ENSP00000494725.1:p.Thr546Ile | |
| ENST00000646085.1:c.*1100C>T | ENSP00000494509.1:n.*1100C>T | |
| ENST00000646277.1:c.*223C>T | ENSP00000495289.1:n.*223C>T | |
| ENST00000646544.1:c.610C>T | ||
| ENST00000646699.1:c.1561C>T | ||
| ENST00000646793.1:c.1514C>T | ENSP00000494512.1:p.Thr505Ile | |
| ENST00000361150.6:c.1625C>T | ENSP00000354781.2:p.Thr542Ile | |
| ENST00000361510.6:c.1787C>T | ENSP00000355324.2:p.Thr596Ile | |
| ENST00000361715.6:c.1679C>T | ENSP00000355311.2:p.Thr560Ile | |
| ENST00000361828.6:c.1676C>T | ENSP00000354429.2:p.Thr559Ile | |
| ENST00000361908.7:c.1733C>T | ENSP00000354681.3:p.Thr578Ile | |
| ENST00000392438.7:c.1622C>T | ENSP00000376233.3:p.Thr541Ile | |
| ENST00000483516.1:n.120C>T | ||
| NM_015560.2:c.1622C>T , LRG_337t1:c.1622C>T | NP_056375.2:p.Thr541Ile | |
| NM_130831.2:c.1514C>T | NP_570844.1:p.Thr505Ile | |
| NM_130832.2:c.1568C>T | NP_570845.1:p.Thr523Ile | |
| NM_130833.2:c.1625C>T | NP_570846.1:p.Thr542Ile | |
| NM_130834.2:c.1676C>T | NP_570847.2:p.Thr559Ile | |
| NM_130835.2:c.1679C>T | NP_570848.1:p.Thr560Ile | |
| NM_130836.2:c.1733C>T | NP_570849.2:p.Thr578Ile | |
| NM_130837.2:c.1787C>T , LRG_337t2:c.1787C>T | NP_570850.2:p.Thr596Ile | |
| XM_011512863.1:c.1787C>T | XP_011511165.1:p.Thr596Ile | |
| XM_011512864.1:c.1733C>T | XP_011511166.1:p.Thr578Ile | |
| XM_011512865.1:c.1676C>T | XP_011511167.1:p.Thr559Ile | |
| XM_011512866.1:c.1625C>T | XP_011511168.1:p.Thr542Ile | |
| XM_011512867.1:c.1622C>T | XP_011511169.1:p.Thr541Ile | |
| XM_011512868.1:c.1514C>T | XP_011511170.1:p.Thr505Ile | |
| XM_011512869.1:c.1787C>T | XP_011511171.1:p.Thr596Ile | |
| NM_001354663.1:c.1253C>T | NP_001341592.1:p.Thr418Ile | |
| NM_001354664.1:c.1250C>T | NP_001341593.1:p.Thr417Ile | |
| XR_001740158.2:n.2016C>T | ||
| XR_001740159.2:n.1851C>T | ||
| NM_001354663.2:c.1253C>T | NP_001341592.1:p.Thr418Ile | |
| NM_001354664.2:c.1250C>T | NP_001341593.1:p.Thr417Ile | |
| NM_130831.3:c.1514C>T | NP_570844.1:p.Thr505Ile | |
| NM_130832.3:c.1568C>T | NP_570845.1:p.Thr523Ile | |
| NM_130834.3:c.1676C>T | NP_570847.2:p.Thr559Ile | |
| NM_130836.3:c.1733C>T | NP_570849.2:p.Thr578Ile | |
| NM_015560.3:c.1622C>T | NP_056375.2:p.Thr541Ile | |
| NM_130833.3:c.1625C>T | NP_570846.1:p.Thr542Ile | |
| NM_130835.3:c.1679C>T | NP_570848.1:p.Thr560Ile | |
| NM_130837.3:c.1787C>T MANE Select | NP_570850.2:p.Thr596Ile |