Linked Data
ClinVar Variation Id:
2501216
dbSNP Id:
rs1416974672
gnomAD v2:
3-193360634-T-C
gnomAD v4:
3-193642845-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193642845T>C , CM000665.2:g.193642845T>C | GRCh38 |
| NC_000003.11:g.193360634T>C , CM000665.1:g.193360634T>C | GRCh37 |
| NC_000003.10:g.194843328T>C | NCBI36 |
| NG_011605.1:g.54702T>C , LRG_337:g.54702T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.1230T>C MANE Select | ENSP00000355324.2:p.Asp410= | |
| ENST00000361828.7:c.1065T>C | ENSP00000354429.3:p.Asp355= | |
| ENST00000361908.8:c.1176T>C | ENSP00000354681.3:p.Asp392= | |
| ENST00000392436.7:c.1065T>C | ENSP00000376231.3:p.Asp355= | |
| ENST00000392437.6:c.1119T>C | ENSP00000376232.2:p.Asp373= | |
| ENST00000642289.1:c.1080-528T>C | ||
| ENST00000642445.1:c.1065T>C | ENSP00000495535.1:p.Asp355= | |
| ENST00000642593.1:c.1065T>C | ENSP00000494273.1:p.Asp355= | |
| ENST00000643329.1:c.747T>C | ENSP00000493673.1:p.Asp249= | |
| ENST00000643737.1:c.*1146T>C | ENSP00000494210.1:n.*1146T>C | |
| ENST00000644595.1:c.1065T>C | ENSP00000494121.1:p.Asp355= | |
| ENST00000644629.1:c.725T>C | ||
| ENST00000644841.1:c.693T>C | ENSP00000493988.1:p.Asp231= | |
| ENST00000644959.1:c.1034T>C | ||
| ENST00000645553.1:c.1080T>C | ENSP00000494725.1:p.Asp360= | |
| ENST00000646085.1:c.*543T>C | ENSP00000494509.1:n.*543T>C | |
| ENST00000646277.1:c.1230T>C | ENSP00000495289.1:p.Asp410= | |
| ENST00000646544.1:c.128T>C | ||
| ENST00000646699.1:c.1080-528T>C | ||
| ENST00000646793.1:c.957T>C | ENSP00000494512.1:p.Asp319= | |
| ENST00000361150.6:c.1068T>C | ENSP00000354781.2:p.Asp356= | |
| ENST00000361510.6:c.1230T>C | ENSP00000355324.2:p.Asp410= | |
| ENST00000361715.6:c.1122T>C | ENSP00000355311.2:p.Asp374= | |
| ENST00000361828.6:c.1119T>C | ENSP00000354429.2:p.Asp373= | |
| ENST00000361908.7:c.1176T>C | ENSP00000354681.3:p.Asp392= | |
| ENST00000392438.7:c.1065T>C | ENSP00000376233.3:p.Asp355= | |
| ENST00000475899.1:n.261T>C | ||
| ENST00000497189.5:n.551T>C | ||
| NM_015560.2:c.1065T>C , LRG_337t1:c.1065T>C | NP_056375.2:p.Asp355= | |
| NM_130831.2:c.957T>C | NP_570844.1:p.Asp319= | |
| NM_130832.2:c.1011T>C | NP_570845.1:p.Asp337= | |
| NM_130833.2:c.1068T>C | NP_570846.1:p.Asp356= | |
| NM_130834.2:c.1119T>C | NP_570847.2:p.Asp373= | |
| NM_130835.2:c.1122T>C | NP_570848.1:p.Asp374= | |
| NM_130836.2:c.1176T>C | NP_570849.2:p.Asp392= | |
| NM_130837.2:c.1230T>C , LRG_337t2:c.1230T>C | NP_570850.2:p.Asp410= | |
| XM_011512863.1:c.1230T>C | XP_011511165.1:p.Asp410= | |
| XM_011512864.1:c.1176T>C | XP_011511166.1:p.Asp392= | |
| XM_011512865.1:c.1119T>C | XP_011511167.1:p.Asp373= | |
| XM_011512866.1:c.1068T>C | XP_011511168.1:p.Asp356= | |
| XM_011512867.1:c.1065T>C | XP_011511169.1:p.Asp355= | |
| XM_011512868.1:c.957T>C | XP_011511170.1:p.Asp319= | |
| XM_011512869.1:c.1230T>C | XP_011511171.1:p.Asp410= | |
| NM_001354663.1:c.696T>C | NP_001341592.1:p.Asp232= | |
| NM_001354664.1:c.693T>C | NP_001341593.1:p.Asp231= | |
| XR_001740158.2:n.1459T>C | ||
| XR_001740159.2:n.1294T>C | ||
| NM_001354663.2:c.696T>C | NP_001341592.1:p.Asp232= | |
| NM_001354664.2:c.693T>C | NP_001341593.1:p.Asp231= | |
| NM_130831.3:c.957T>C | NP_570844.1:p.Asp319= | |
| NM_130832.3:c.1011T>C | NP_570845.1:p.Asp337= | |
| NM_130834.3:c.1119T>C | NP_570847.2:p.Asp373= | |
| NM_130836.3:c.1176T>C | NP_570849.2:p.Asp392= | |
| NM_015560.3:c.1065T>C | NP_056375.2:p.Asp355= | |
| NM_130833.3:c.1068T>C | NP_570846.1:p.Asp356= | |
| NM_130835.3:c.1122T>C | NP_570848.1:p.Asp374= | |
| NM_130837.3:c.1230T>C MANE Select | NP_570850.2:p.Asp410= |