Linked Data
dbSNP Id:
rs398124303
ExAC:
3:193355853 A / C
gnomAD v2:
3-193355853-A-C
gnomAD v4:
3-193638064-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193638064A>C , CM000665.2:g.193638064A>C | GRCh38 |
| NC_000003.11:g.193355853A>C , CM000665.1:g.193355853A>C | GRCh37 |
| NC_000003.10:g.194838547A>C | NCBI36 |
| NG_011605.1:g.49921A>C , LRG_337:g.49921A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.1148A>C MANE Select | ENSP00000355324.2:p.Lys383Thr | |
| ENST00000361828.7:c.983A>C | ENSP00000354429.3:p.Lys328Thr | |
| ENST00000361908.8:c.1094A>C | ENSP00000354681.3:p.Lys365Thr | |
| ENST00000392436.7:c.983A>C | ENSP00000376231.3:p.Lys328Thr | |
| ENST00000392437.6:c.1037A>C | ENSP00000376232.2:p.Lys346Thr | |
| ENST00000642289.1:c.1078A>C | ||
| ENST00000642445.1:c.983A>C | ENSP00000495535.1:p.Lys328Thr | |
| ENST00000642593.1:c.983A>C | ENSP00000494273.1:p.Lys328Thr | |
| ENST00000643329.1:c.665A>C | ENSP00000493673.1:p.Lys222Thr | |
| ENST00000643737.1:c.*1064A>C | ENSP00000494210.1:n.*1064A>C | |
| ENST00000644595.1:c.983A>C | ENSP00000494121.1:p.Lys328Thr | |
| ENST00000644629.1:c.643A>C | ||
| ENST00000644841.1:c.611A>C | ENSP00000493988.1:p.Lys204Thr | |
| ENST00000644959.1:c.952A>C | ||
| ENST00000645553.1:c.998A>C | ENSP00000494725.1:p.Lys333Thr | |
| ENST00000646085.1:c.*461A>C | ENSP00000494509.1:n.*461A>C | |
| ENST00000646277.1:c.1148A>C | ENSP00000495289.1:p.Lys383Thr | |
| ENST00000646544.1:c.46A>C | ||
| ENST00000646699.1:c.1078A>C | ||
| ENST00000646793.1:c.875A>C | ENSP00000494512.1:p.Lys292Thr | |
| ENST00000361150.6:c.986A>C | ENSP00000354781.2:p.Lys329Thr | |
| ENST00000361510.6:c.1148A>C | ENSP00000355324.2:p.Lys383Thr | |
| ENST00000361715.6:c.1040A>C | ENSP00000355311.2:p.Lys347Thr | |
| ENST00000361828.6:c.1037A>C | ENSP00000354429.2:p.Lys346Thr | |
| ENST00000361908.7:c.1094A>C | ENSP00000354681.3:p.Lys365Thr | |
| ENST00000392438.7:c.983A>C | ENSP00000376233.3:p.Lys328Thr | |
| ENST00000475899.1:n.179A>C | ||
| ENST00000497189.5:n.469A>C | ||
| NM_015560.2:c.983A>C , LRG_337t1:c.983A>C | NP_056375.2:p.Lys328Thr | |
| NM_130831.2:c.875A>C | NP_570844.1:p.Lys292Thr | |
| NM_130832.2:c.929A>C | NP_570845.1:p.Lys310Thr | |
| NM_130833.2:c.986A>C | NP_570846.1:p.Lys329Thr | |
| NM_130834.2:c.1037A>C | NP_570847.2:p.Lys346Thr | |
| NM_130835.2:c.1040A>C | NP_570848.1:p.Lys347Thr | |
| NM_130836.2:c.1094A>C | NP_570849.2:p.Lys365Thr | |
| NM_130837.2:c.1148A>C , LRG_337t2:c.1148A>C | NP_570850.2:p.Lys383Thr | |
| XM_011512863.1:c.1148A>C | XP_011511165.1:p.Lys383Thr | |
| XM_011512864.1:c.1094A>C | XP_011511166.1:p.Lys365Thr | |
| XM_011512865.1:c.1037A>C | XP_011511167.1:p.Lys346Thr | |
| XM_011512866.1:c.986A>C | XP_011511168.1:p.Lys329Thr | |
| XM_011512867.1:c.983A>C | XP_011511169.1:p.Lys328Thr | |
| XM_011512868.1:c.875A>C | XP_011511170.1:p.Lys292Thr | |
| XM_011512869.1:c.1148A>C | XP_011511171.1:p.Lys383Thr | |
| NM_001354663.1:c.614A>C | NP_001341592.1:p.Lys205Thr | |
| NM_001354664.1:c.611A>C | NP_001341593.1:p.Lys204Thr | |
| XR_001740158.2:n.1377A>C | ||
| XR_001740159.2:n.1212A>C | ||
| NM_001354663.2:c.614A>C | NP_001341592.1:p.Lys205Thr | |
| NM_001354664.2:c.611A>C | NP_001341593.1:p.Lys204Thr | |
| NM_130831.3:c.875A>C | NP_570844.1:p.Lys292Thr | |
| NM_130832.3:c.929A>C | NP_570845.1:p.Lys310Thr | |
| NM_130834.3:c.1037A>C | NP_570847.2:p.Lys346Thr | |
| NM_130836.3:c.1094A>C | NP_570849.2:p.Lys365Thr | |
| NM_015560.3:c.983A>C | NP_056375.2:p.Lys328Thr | |
| NM_130833.3:c.986A>C | NP_570846.1:p.Lys329Thr | |
| NM_130835.3:c.1040A>C | NP_570848.1:p.Lys347Thr | |
| NM_130837.3:c.1148A>C MANE Select | NP_570850.2:p.Lys383Thr |