Linked Data
dbSNP Id:
rs1168923295
gnomAD v2:
11-13407812-C-T
gnomAD v3:
11-13386265-C-T
gnomAD v4:
11-13386265-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13386265C>T , CM000673.2:g.13386265C>T | GRCh38 |
| NC_000011.9:g.13407812C>T , CM000673.1:g.13407812C>T | GRCh37 |
| NC_000011.8:g.13364388C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000401424.6:c.1589-331C>T | ENSP00000385915.2:n.1589-331C>T | |
| ENST00000403290.6:c.1721-331C>T MANE Select | ENSP00000384517.1:n.1721-331C>T | |
| ENST00000403510.8:c.1721-331C>T | ENSP00000385581.4:n.1721-331C>T | |
| ENST00000529388.6:c.1721-331C>T | ENSP00000433571.2:n.1721-331C>T | |
| ENST00000673626.1:c.*1600-331C>T | ENSP00000500988.1:n.*1600-331C>T | |
| ENST00000673817.1:c.1733-331C>T | ENSP00000501212.1:n.1733-331C>T | |
| ENST00000673834.1:c.*1584-331C>T | ENSP00000500983.1:n.*1584-331C>T | |
| ENST00000673868.1:c.1311-331C>T | ||
| ENST00000673888.1:c.*1600-331C>T | ENSP00000501059.1:n.*1600-331C>T | |
| ENST00000673892.1:c.*1597-331C>T | ENSP00000501106.1:n.*1597-331C>T | |
| ENST00000674108.1:c.*1584-331C>T | ENSP00000501035.1:n.*1584-331C>T | |
| ENST00000389707.8:c.1718-331C>T | ENSP00000374357.4:n.1718-331C>T | |
| ENST00000401424.5:c.1592-331C>T | ENSP00000385915.1:n.1592-331C>T | |
| ENST00000403290.5:c.1721-331C>T | ENSP00000384517.1:n.1721-331C>T | |
| ENST00000403482.7:c.1715-331C>T | ENSP00000385897.3:n.1715-331C>T | |
| ENST00000403510.7:c.1589-331C>T | ENSP00000385581.3:n.1589-331C>T | |
| ENST00000472842.1:n.3195-331C>T | ||
| ENST00000524392.5:c.751-331C>T | ENSP00000436442.1:n.751-331C>T | |
| NM_001030272.2:c.1718-331C>T | NP_001025443.1:n.1718-331C>T | |
| NM_001030273.2:c.1589-331C>T | NP_001025444.1:n.1589-331C>T | |
| NM_001178.5:c.1718-331C>T | NP_001169.3:n.1718-331C>T | |
| NM_001297719.1:c.1721-331C>T | NP_001284648.1:n.1721-331C>T | |
| NM_001297722.1:c.1721-331C>T | NP_001284651.1:n.1721-331C>T | |
| NM_001297724.1:c.1592-331C>T | NP_001284653.1:n.1592-331C>T | |
| XM_006718233.2:c.1736-331C>T | XP_006718296.1:n.1736-331C>T | |
| XM_006718234.1:c.1607-331C>T | XP_006718297.1:n.1607-331C>T | |
| XM_011520105.1:c.1733-331C>T | XP_011518407.1:n.1733-331C>T | |
| XM_011520106.1:c.1721-331C>T | XP_011518408.1:n.1721-331C>T | |
| XM_011520107.1:c.1718-331C>T | XP_011518409.1:n.1718-331C>T | |
| XM_011520108.1:c.1736-331C>T | XP_011518410.1:n.1736-331C>T | |
| XM_011520109.1:c.1736-331C>T | XP_011518411.1:n.1736-331C>T | |
| XM_011520110.1:c.1607-331C>T | XP_011518412.1:n.1607-331C>T | |
| XM_011520111.1:c.1607-331C>T | XP_011518413.1:n.1607-331C>T | |
| XM_011520112.1:c.1592-331C>T | XP_011518414.1:n.1592-331C>T | |
| XM_011520113.1:c.1589-331C>T | XP_011518415.1:n.1589-331C>T | |
| NM_001351804.1:c.1718-331C>T | NP_001338733.1:n.1718-331C>T | |
| NM_001351805.1:c.1682-331C>T | NP_001338734.1:n.1682-331C>T | |
| NM_001351806.1:c.1679-331C>T | NP_001338735.1:n.1679-331C>T | |
| NM_001351807.1:c.1736-331C>T | NP_001338736.1:n.1736-331C>T | |
| NM_001351808.1:c.1592-331C>T | NP_001338737.1:n.1592-331C>T | |
| NM_001351809.1:c.1670-331C>T | NP_001338738.1:n.1670-331C>T | |
| NM_001351810.1:c.1367-331C>T | NP_001338739.1:n.1367-331C>T | |
| NM_001351811.1:c.971-331C>T | NP_001338740.1:n.971-331C>T | |
| NM_001351812.1:c.1670-331C>T | NP_001338741.1:n.1670-331C>T | |
| NM_001351813.1:c.1604-331C>T | NP_001338742.1:n.1604-331C>T | |
| NM_001351814.1:c.1736-331C>T | NP_001338743.1:n.1736-331C>T | |
| NM_001351815.1:c.1718-331C>T | NP_001338744.1:n.1718-331C>T | |
| NM_001351816.1:c.1592-331C>T | NP_001338745.1:n.1592-331C>T | |
| NM_001351817.1:c.1367-331C>T | NP_001338746.1:n.1367-331C>T | |
| NM_001351818.1:c.1589-331C>T | NP_001338747.1:n.1589-331C>T | |
| NM_001351819.1:c.1733-331C>T | NP_001338748.1:n.1733-331C>T | |
| NM_001351820.1:c.1592-331C>T | NP_001338749.1:n.1592-331C>T | |
| NM_001351821.1:c.1592-331C>T | NP_001338750.1:n.1592-331C>T | |
| NM_001351822.1:c.1592-331C>T | NP_001338751.1:n.1592-331C>T | |
| NM_001351823.1:c.1607-331C>T | NP_001338752.1:n.1607-331C>T | |
| NM_001351824.1:c.1721-331C>T | NP_001338753.1:n.1721-331C>T | |
| NR_147785.1:n.2220-331C>T | ||
| NR_147786.1:n.2217-331C>T | ||
| NR_147787.1:n.2370-331C>T | ||
| NR_147788.1:n.2272-331C>T | ||
| NR_147789.1:n.2438-331C>T | ||
| NR_147790.1:n.2291-331C>T | ||
| NR_147791.1:n.2288-331C>T | ||
| XM_011520105.3:c.1862-331C>T | XP_011518407.2:n.1862-331C>T | |
| XM_011520107.3:c.1847-331C>T | XP_011518409.2:n.1847-331C>T | |
| XM_017017738.2:c.1865-331C>T | XP_016873227.1:n.1865-331C>T | |
| XM_017017739.2:c.1850-331C>T | XP_016873228.1:n.1850-331C>T | |
| XM_017017741.1:c.1733-331C>T | XP_016873230.1:n.1733-331C>T | |
| XM_017017744.1:c.1604-331C>T | XP_016873233.1:n.1604-331C>T | |
| XM_017017748.1:c.1589-331C>T | XP_016873237.1:n.1589-331C>T | |
| XM_024448522.1:c.1670-331C>T | XP_024304290.1:n.1670-331C>T | |
| XR_001747876.2:n.2418-331C>T | ||
| XR_002957147.1:n.2433-331C>T | ||
| NM_001030272.3:c.1718-331C>T | NP_001025443.1:n.1718-331C>T | |
| NM_001030273.3:c.1589-331C>T | NP_001025444.1:n.1589-331C>T | |
| NM_001178.6:c.1718-331C>T | NP_001169.3:n.1718-331C>T | |
| NM_001297719.2:c.1721-331C>T MANE Select | NP_001284648.1:n.1721-331C>T | |
| NM_001297722.2:c.1721-331C>T | NP_001284651.1:n.1721-331C>T | |
| NM_001297724.2:c.1592-331C>T | NP_001284653.1:n.1592-331C>T | |
| NM_001351805.2:c.1682-331C>T | NP_001338734.1:n.1682-331C>T | |
| NM_001351806.2:c.1679-331C>T | NP_001338735.1:n.1679-331C>T | |
| NM_001351807.2:c.1736-331C>T | NP_001338736.1:n.1736-331C>T | |
| NM_001351808.2:c.1592-331C>T | NP_001338737.1:n.1592-331C>T | |
| NM_001351809.2:c.1670-331C>T | NP_001338738.1:n.1670-331C>T | |
| NM_001351810.2:c.1367-331C>T | NP_001338739.1:n.1367-331C>T | |
| NM_001351811.2:c.971-331C>T | NP_001338740.1:n.971-331C>T | |
| NM_001351812.2:c.1670-331C>T | NP_001338741.1:n.1670-331C>T | |
| NM_001351813.2:c.1604-331C>T | NP_001338742.1:n.1604-331C>T | |
| NM_001351814.2:c.1736-331C>T | NP_001338743.1:n.1736-331C>T | |
| NM_001351815.2:c.1718-331C>T | NP_001338744.1:n.1718-331C>T | |
| NM_001351816.2:c.1592-331C>T | NP_001338745.1:n.1592-331C>T | |
| NM_001351817.2:c.1367-331C>T | NP_001338746.1:n.1367-331C>T | |
| NM_001351818.2:c.1589-331C>T | NP_001338747.1:n.1589-331C>T | |
| NM_001351819.2:c.1733-331C>T | NP_001338748.1:n.1733-331C>T | |
| NM_001351820.2:c.1592-331C>T | NP_001338749.1:n.1592-331C>T | |
| NM_001351821.2:c.1592-331C>T | NP_001338750.1:n.1592-331C>T | |
| NM_001351822.2:c.1592-331C>T | NP_001338751.1:n.1592-331C>T | |
| NM_001351823.2:c.1607-331C>T | NP_001338752.1:n.1607-331C>T | |
| NM_001351824.2:c.1721-331C>T | NP_001338753.1:n.1721-331C>T | |
| NR_147785.2:n.2157-331C>T | ||
| NR_147786.2:n.2154-331C>T | ||
| NR_147787.2:n.2307-331C>T | ||
| NR_147788.2:n.2209-331C>T | ||
| NR_147789.2:n.2375-331C>T | ||
| NR_147790.2:n.2228-331C>T | ||
| NR_147791.2:n.2225-331C>T |