Linked Data
ClinVar Variation Id:
95711
dbSNP Id:
rs78767626
ExAC:
3:193364872 A / C
gnomAD v2:
3-193364872-A-C
gnomAD v3:
3-193647083-A-C
gnomAD v4:
3-193647083-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193647083A>C , CM000665.2:g.193647083A>C | GRCh38 |
| NC_000003.11:g.193364872A>C , CM000665.1:g.193364872A>C | GRCh37 |
| NC_000003.10:g.194847566A>C | NCBI36 |
| NG_011605.1:g.58940A>C , LRG_337:g.58940A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.1773A>C MANE Select | ENSP00000355324.2:p.Ala591= | |
| ENST00000361828.7:c.1608A>C | ENSP00000354429.3:p.Ala536= | |
| ENST00000361908.8:c.1719A>C | ENSP00000354681.3:p.Ala573= | |
| ENST00000392436.7:c.1608A>C | ENSP00000376231.3:p.Ala536= | |
| ENST00000392437.6:c.1662A>C | ENSP00000376232.2:p.Ala554= | |
| ENST00000642289.1:c.1547A>C | ||
| ENST00000642445.1:c.1608A>C | ENSP00000495535.1:p.Ala536= | |
| ENST00000642593.1:c.1608A>C | ENSP00000494273.1:p.Ala536= | |
| ENST00000643329.1:c.1290A>C | ENSP00000493673.1:p.Ala430= | |
| ENST00000643737.1:c.*1689A>C | ENSP00000494210.1:n.*1689A>C | |
| ENST00000644595.1:c.1608A>C | ENSP00000494121.1:p.Ala536= | |
| ENST00000644629.1:c.1195A>C | ||
| ENST00000644841.1:c.*92A>C | ENSP00000493988.1:n.*92A>C | |
| ENST00000644959.1:c.1577A>C | ||
| ENST00000645553.1:c.1623A>C | ENSP00000494725.1:p.Ala541= | |
| ENST00000646085.1:c.*1086A>C | ENSP00000494509.1:n.*1086A>C | |
| ENST00000646277.1:c.*209A>C | ENSP00000495289.1:n.*209A>C | |
| ENST00000646544.1:c.596A>C | ||
| ENST00000646699.1:c.1547A>C | ||
| ENST00000646793.1:c.1500A>C | ENSP00000494512.1:p.Ala500= | |
| ENST00000361150.6:c.1611A>C | ENSP00000354781.2:p.Ala537= | |
| ENST00000361510.6:c.1773A>C | ENSP00000355324.2:p.Ala591= | |
| ENST00000361715.6:c.1665A>C | ENSP00000355311.2:p.Ala555= | |
| ENST00000361828.6:c.1662A>C | ENSP00000354429.2:p.Ala554= | |
| ENST00000361908.7:c.1719A>C | ENSP00000354681.3:p.Ala573= | |
| ENST00000392438.7:c.1608A>C | ENSP00000376233.3:p.Ala536= | |
| ENST00000483516.1:n.106A>C | ||
| NM_015560.2:c.1608A>C , LRG_337t1:c.1608A>C | NP_056375.2:p.Ala536= | |
| NM_130831.2:c.1500A>C | NP_570844.1:p.Ala500= | |
| NM_130832.2:c.1554A>C | NP_570845.1:p.Ala518= | |
| NM_130833.2:c.1611A>C | NP_570846.1:p.Ala537= | |
| NM_130834.2:c.1662A>C | NP_570847.2:p.Ala554= | |
| NM_130835.2:c.1665A>C | NP_570848.1:p.Ala555= | |
| NM_130836.2:c.1719A>C | NP_570849.2:p.Ala573= | |
| NM_130837.2:c.1773A>C , LRG_337t2:c.1773A>C | NP_570850.2:p.Ala591= | |
| XM_011512863.1:c.1773A>C | XP_011511165.1:p.Ala591= | |
| XM_011512864.1:c.1719A>C | XP_011511166.1:p.Ala573= | |
| XM_011512865.1:c.1662A>C | XP_011511167.1:p.Ala554= | |
| XM_011512866.1:c.1611A>C | XP_011511168.1:p.Ala537= | |
| XM_011512867.1:c.1608A>C | XP_011511169.1:p.Ala536= | |
| XM_011512868.1:c.1500A>C | XP_011511170.1:p.Ala500= | |
| XM_011512869.1:c.1773A>C | XP_011511171.1:p.Ala591= | |
| NM_001354663.1:c.1239A>C | NP_001341592.1:p.Ala413= | |
| NM_001354664.1:c.1236A>C | NP_001341593.1:p.Ala412= | |
| XR_001740158.2:n.2002A>C | ||
| XR_001740159.2:n.1837A>C | ||
| NM_001354663.2:c.1239A>C | NP_001341592.1:p.Ala413= | |
| NM_001354664.2:c.1236A>C | NP_001341593.1:p.Ala412= | |
| NM_130831.3:c.1500A>C | NP_570844.1:p.Ala500= | |
| NM_130832.3:c.1554A>C | NP_570845.1:p.Ala518= | |
| NM_130834.3:c.1662A>C | NP_570847.2:p.Ala554= | |
| NM_130836.3:c.1719A>C | NP_570849.2:p.Ala573= | |
| NM_015560.3:c.1608A>C | NP_056375.2:p.Ala536= | |
| NM_130833.3:c.1611A>C | NP_570846.1:p.Ala537= | |
| NM_130835.3:c.1665A>C | NP_570848.1:p.Ala555= | |
| NM_130837.3:c.1773A>C MANE Select | NP_570850.2:p.Ala591= |