Linked Data
dbSNP Id:
rs1368090328
gnomAD v2:
3-193364859-G-A
gnomAD v3:
3-193647070-G-A
gnomAD v4:
3-193647070-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193647070G>A , CM000665.2:g.193647070G>A | GRCh38 |
| NC_000003.11:g.193364859G>A , CM000665.1:g.193364859G>A | GRCh37 |
| NC_000003.10:g.194847553G>A | NCBI36 |
| NG_011605.1:g.58927G>A , LRG_337:g.58927G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.1760G>A MANE Select | ENSP00000355324.2:p.Ser587Asn | |
| ENST00000361828.7:c.1595G>A | ENSP00000354429.3:p.Ser532Asn | |
| ENST00000361908.8:c.1706G>A | ENSP00000354681.3:p.Ser569Asn | |
| ENST00000392436.7:c.1595G>A | ENSP00000376231.3:p.Ser532Asn | |
| ENST00000392437.6:c.1649G>A | ENSP00000376232.2:p.Ser550Asn | |
| ENST00000642289.1:c.1534G>A | ||
| ENST00000642445.1:c.1595G>A | ENSP00000495535.1:p.Ser532Asn | |
| ENST00000642593.1:c.1595G>A | ENSP00000494273.1:p.Ser532Asn | |
| ENST00000643329.1:c.1277G>A | ENSP00000493673.1:p.Ser426Asn | |
| ENST00000643737.1:c.*1676G>A | ENSP00000494210.1:n.*1676G>A | |
| ENST00000644595.1:c.1595G>A | ENSP00000494121.1:p.Ser532Asn | |
| ENST00000644629.1:c.1182G>A | ||
| ENST00000644841.1:c.*79G>A | ENSP00000493988.1:n.*79G>A | |
| ENST00000644959.1:c.1564G>A | ||
| ENST00000645553.1:c.1610G>A | ENSP00000494725.1:p.Ser537Asn | |
| ENST00000646085.1:c.*1073G>A | ENSP00000494509.1:n.*1073G>A | |
| ENST00000646277.1:c.*196G>A | ENSP00000495289.1:n.*196G>A | |
| ENST00000646544.1:c.583G>A | ||
| ENST00000646699.1:c.1534G>A | ||
| ENST00000646793.1:c.1487G>A | ENSP00000494512.1:p.Ser496Asn | |
| ENST00000361150.6:c.1598G>A | ENSP00000354781.2:p.Ser533Asn | |
| ENST00000361510.6:c.1760G>A | ENSP00000355324.2:p.Ser587Asn | |
| ENST00000361715.6:c.1652G>A | ENSP00000355311.2:p.Ser551Asn | |
| ENST00000361828.6:c.1649G>A | ENSP00000354429.2:p.Ser550Asn | |
| ENST00000361908.7:c.1706G>A | ENSP00000354681.3:p.Ser569Asn | |
| ENST00000392438.7:c.1595G>A | ENSP00000376233.3:p.Ser532Asn | |
| ENST00000483516.1:n.93G>A | ||
| NM_015560.2:c.1595G>A , LRG_337t1:c.1595G>A | NP_056375.2:p.Ser532Asn | |
| NM_130831.2:c.1487G>A | NP_570844.1:p.Ser496Asn | |
| NM_130832.2:c.1541G>A | NP_570845.1:p.Ser514Asn | |
| NM_130833.2:c.1598G>A | NP_570846.1:p.Ser533Asn | |
| NM_130834.2:c.1649G>A | NP_570847.2:p.Ser550Asn | |
| NM_130835.2:c.1652G>A | NP_570848.1:p.Ser551Asn | |
| NM_130836.2:c.1706G>A | NP_570849.2:p.Ser569Asn | |
| NM_130837.2:c.1760G>A , LRG_337t2:c.1760G>A | NP_570850.2:p.Ser587Asn | |
| XM_011512863.1:c.1760G>A | XP_011511165.1:p.Ser587Asn | |
| XM_011512864.1:c.1706G>A | XP_011511166.1:p.Ser569Asn | |
| XM_011512865.1:c.1649G>A | XP_011511167.1:p.Ser550Asn | |
| XM_011512866.1:c.1598G>A | XP_011511168.1:p.Ser533Asn | |
| XM_011512867.1:c.1595G>A | XP_011511169.1:p.Ser532Asn | |
| XM_011512868.1:c.1487G>A | XP_011511170.1:p.Ser496Asn | |
| XM_011512869.1:c.1760G>A | XP_011511171.1:p.Ser587Asn | |
| NM_001354663.1:c.1226G>A | NP_001341592.1:p.Ser409Asn | |
| NM_001354664.1:c.1223G>A | NP_001341593.1:p.Ser408Asn | |
| XR_001740158.2:n.1989G>A | ||
| XR_001740159.2:n.1824G>A | ||
| NM_001354663.2:c.1226G>A | NP_001341592.1:p.Ser409Asn | |
| NM_001354664.2:c.1223G>A | NP_001341593.1:p.Ser408Asn | |
| NM_130831.3:c.1487G>A | NP_570844.1:p.Ser496Asn | |
| NM_130832.3:c.1541G>A | NP_570845.1:p.Ser514Asn | |
| NM_130834.3:c.1649G>A | NP_570847.2:p.Ser550Asn | |
| NM_130836.3:c.1706G>A | NP_570849.2:p.Ser569Asn | |
| NM_015560.3:c.1595G>A | NP_056375.2:p.Ser532Asn | |
| NM_130833.3:c.1598G>A | NP_570846.1:p.Ser533Asn | |
| NM_130835.3:c.1652G>A | NP_570848.1:p.Ser551Asn | |
| NM_130837.3:c.1760G>A MANE Select | NP_570850.2:p.Ser587Asn |