Linked Data
dbSNP Id:
rs1175544
gnomAD v2:
3-12467044-C-T
gnomAD v3:
3-12425545-C-T
gnomAD v4:
3-12425545-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12425545C>T , CM000665.2:g.12425545C>T | GRCh38 |
| NC_000003.11:g.12467044C>T , CM000665.1:g.12467044C>T | GRCh37 |
| NC_000003.10:g.12442044C>T | NCBI36 |
| NG_011749.1:g.142696C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681966.1:c.*435-8353C>T | ENSP00000507572.1:n.*435-8353C>T | |
| ENST00000681982.1:c.1181-8353C>T | ENSP00000508065.1:n.1181-8353C>T | |
| ENST00000682125.1:n.1226-8353C>T | ||
| ENST00000682446.1:c.1181-8353C>T | ENSP00000506813.1:n.1181-8353C>T | |
| ENST00000682494.1:n.4081-8353C>T | ||
| ENST00000682604.1:n.1424-8353C>T | ||
| ENST00000683586.1:c.1181-8353C>T | ENSP00000507893.1:n.1181-8353C>T | |
| ENST00000683599.1:n.230-8362C>T | ||
| ENST00000683699.1:c.820-8353C>T | ENSP00000507823.1:n.820-8353C>T | |
| ENST00000683700.1:c.1070+8047C>T | ENSP00000508248.1:n.1070+8047C>T | |
| ENST00000684065.1:c.*467-8353C>T | ENSP00000508347.1:n.*467-8353C>T | |
| ENST00000684094.1:n.1823-8353C>T | ||
| ENST00000684277.1:n.148+824C>T | ||
| ENST00000309576.11:c.1181-8353C>T | ENSP00000312472.7:n.1181-8353C>T | |
| ENST00000396999.3:c.*769-8353C>T | ENSP00000380195.3:n.*769-8353C>T | |
| ENST00000397000.6:c.730-8353C>T | ENSP00000380196.2:n.730-8353C>T | |
| ENST00000397010.7:c.1181-8353C>T | ENSP00000380205.3:n.1181-8353C>T | |
| ENST00000397015.7:c.1181-8353C>T | ENSP00000380210.3:n.1181-8353C>T | |
| ENST00000397026.7:c.1181-8353C>T | ENSP00000380221.3:n.1181-8353C>T | |
| ENST00000643197.2:c.1181-8353C>T | ENSP00000495840.2:n.1181-8353C>T | |
| ENST00000643888.2:c.1181-8353C>T | ENSP00000494934.2:n.1181-8353C>T | |
| ENST00000644622.2:c.1181-8353C>T | ENSP00000494873.2:n.1181-8353C>T | |
| ENST00000651735.1:c.1181-8353C>T MANE Select | ENSP00000498313.1:n.1181-8353C>T | |
| ENST00000652098.1:c.635-8353C>T | ENSP00000498300.1:n.635-8353C>T | |
| ENST00000652431.1:c.869-8353C>T | ENSP00000498717.1:n.869-8353C>T | |
| ENST00000287820.10:c.1271-8353C>T | ENSP00000287820.6:n.1271-8353C>T | |
| ENST00000309576.10:c.1187-8353C>T | ENSP00000312472.6:n.1187-8353C>T | |
| ENST00000397000.5:c.736-8353C>T | ENSP00000380196.1:n.736-8353C>T | |
| ENST00000397010.6:c.1187-8353C>T | ENSP00000380205.2:n.1187-8353C>T | |
| ENST00000397012.6:c.1187-8353C>T | ENSP00000380207.2:n.1187-8353C>T | |
| ENST00000397015.6:c.1187-8353C>T | ENSP00000380210.2:n.1187-8353C>T | |
| ENST00000397023.5:c.*1409-8353C>T | ENSP00000380218.1:n.*1409-8353C>T | |
| ENST00000397026.6:c.1205-8353C>T | ENSP00000380221.2:n.1205-8353C>T | |
| NM_005037.5:c.1187-8353C>T | NP_005028.4:n.1187-8353C>T | |
| NM_015869.4:c.1271-8353C>T | NP_056953.2:n.1271-8353C>T | |
| NM_138711.3:c.1187-8353C>T | NP_619725.2:n.1187-8353C>T | |
| NM_138712.3:c.1187-8353C>T | NP_619726.2:n.1187-8353C>T | |
| XM_011533840.1:c.1187-8353C>T | XP_011532142.1:n.1187-8353C>T | |
| XM_011533841.1:c.1187-8353C>T | XP_011532143.1:n.1187-8353C>T | |
| XM_011533842.1:c.1270+8391C>T | XP_011532144.1:n.1270+8391C>T | |
| XM_011533843.1:c.820-8353C>T | XP_011532145.1:n.820-8353C>T | |
| XM_011533844.1:c.736-8353C>T | XP_011532146.1:n.736-8353C>T | |
| NM_001330615.1:c.736-8353C>T | NP_001317544.1:n.736-8353C>T | |
| NM_001354666.1:c.1187-8353C>T | NP_001341595.1:n.1187-8353C>T | |
| NM_001354667.1:c.1187-8353C>T | NP_001341596.1:n.1187-8353C>T | |
| NM_001354669.1:c.554-8353C>T | NP_001341598.1:n.554-8353C>T | |
| XM_011533842.2:c.1270+8391C>T | XP_011532144.1:n.1270+8391C>T | |
| XM_011533843.2:c.820-8353C>T | XP_011532145.1:n.820-8353C>T | |
| XM_024453604.1:c.1187-8353C>T | XP_024309372.1:n.1187-8353C>T | |
| XM_024453605.1:c.1187-8353C>T | XP_024309373.1:n.1187-8353C>T | |
| XM_024453606.1:c.1187-8353C>T | XP_024309374.1:n.1187-8353C>T | |
| NM_001330615.2:c.736-8353C>T | NP_001317544.1:n.736-8353C>T | |
| NM_001354666.2:c.1187-8353C>T | NP_001341595.1:n.1187-8353C>T | |
| NM_001354667.2:c.1187-8353C>T | NP_001341596.1:n.1187-8353C>T | |
| NM_001354669.2:c.554-8353C>T | NP_001341598.1:n.554-8353C>T | |
| NM_001374261.1:c.736-8353C>T | NP_001361190.1:n.736-8353C>T | |
| NM_001374262.1:c.736-8353C>T | NP_001361191.1:n.736-8353C>T | |
| NM_001374263.1:c.1187-8353C>T | NP_001361192.1:n.1187-8353C>T | |
| NM_001374264.1:c.1187-8353C>T | NP_001361193.1:n.1187-8353C>T | |
| NM_001374265.1:c.820-8353C>T | NP_001361194.1:n.820-8353C>T | |
| NM_001374266.1:c.654-8353C>T | NP_001361195.1:n.654-8353C>T | |
| NM_005037.6:c.1187-8353C>T | NP_005028.4:n.1187-8353C>T | |
| NM_015869.5:c.1271-8353C>T | NP_056953.2:n.1271-8353C>T | |
| NM_138711.4:c.1187-8353C>T | NP_619725.2:n.1187-8353C>T | |
| NM_138712.4:c.1187-8353C>T | NP_619726.2:n.1187-8353C>T | |
| NM_001330615.4:c.730-8353C>T | NP_001317544.2:n.730-8353C>T | |
| NM_001354666.3:c.1181-8353C>T | NP_001341595.2:n.1181-8353C>T | |
| NM_001354667.3:c.1181-8353C>T | NP_001341596.2:n.1181-8353C>T | |
| NM_001374261.3:c.730-8353C>T | NP_001361190.2:n.730-8353C>T | |
| NM_001374262.3:c.730-8353C>T | NP_001361191.2:n.730-8353C>T | |
| NM_001374263.2:c.1181-8353C>T | NP_001361192.2:n.1181-8353C>T | |
| NM_001374264.2:c.1181-8353C>T | NP_001361193.2:n.1181-8353C>T | |
| NM_005037.7:c.1181-8353C>T | NP_005028.5:n.1181-8353C>T | |
| NM_138711.6:c.1181-8353C>T MANE Select | NP_619725.3:n.1181-8353C>T | |
| NM_138712.5:c.1181-8353C>T | NP_619726.3:n.1181-8353C>T |