Linked Data
dbSNP Id:
rs6486122
gnomAD v2:
11-13361524-C-T
gnomAD v3:
11-13339977-C-T
gnomAD v4:
11-13339977-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13339977C>T , CM000673.2:g.13339977C>T | GRCh38 |
| NC_000011.9:g.13361524C>T , CM000673.1:g.13361524C>T | GRCh37 |
| NC_000011.8:g.13318100C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000401424.6:c.-334-9968C>T | ENSP00000385915.2:n.-334-9968C>T | |
| ENST00000403290.6:c.-134-9968C>T MANE Select | ENSP00000384517.1:n.-134-9968C>T | |
| ENST00000403510.8:c.-134-9968C>T | ENSP00000385581.4:n.-134-9968C>T | |
| ENST00000482049.6:c.-134-9968C>T | ENSP00000436721.2:n.-134-9968C>T | |
| ENST00000529388.6:c.-8-14324C>T | ENSP00000433571.2:n.-8-14324C>T | |
| ENST00000529825.6:c.-8-14324C>T | ENSP00000434263.2:n.-8-14324C>T | |
| ENST00000530357.6:c.-9+13510C>T | ENSP00000436313.2:n.-9+13510C>T | |
| ENST00000673626.1:c.-134-9968C>T | ENSP00000500988.1:n.-134-9968C>T | |
| ENST00000673817.1:c.-134-9968C>T | ENSP00000501212.1:n.-134-9968C>T | |
| ENST00000673834.1:c.-134-9968C>T | ENSP00000500983.1:n.-134-9968C>T | |
| ENST00000673888.1:c.-134-9968C>T | ENSP00000501059.1:n.-134-9968C>T | |
| ENST00000673892.1:c.-134-9968C>T | ENSP00000501106.1:n.-134-9968C>T | |
| ENST00000674108.1:c.-134-9968C>T | ENSP00000501035.1:n.-134-9968C>T | |
| ENST00000389707.8:c.-134-9968C>T | ENSP00000374357.4:n.-134-9968C>T | |
| ENST00000401424.5:c.-327-9968C>T | ENSP00000385915.1:n.-327-9968C>T | |
| ENST00000403290.5:c.-134-9968C>T | ENSP00000384517.1:n.-134-9968C>T | |
| ENST00000403510.7:c.-334-9968C>T | ENSP00000385581.3:n.-334-9968C>T | |
| ENST00000480685.5:n.169-9968C>T | ||
| ENST00000482049.5:c.-355-9968C>T | ENSP00000436721.1:n.-355-9968C>T | |
| ENST00000527998.5:c.-134-9968C>T | ENSP00000433540.1:n.-134-9968C>T | |
| ENST00000529050.5:c.-8-14324C>T | ENSP00000434044.1:n.-8-14324C>T | |
| ENST00000529388.5:c.-8-14324C>T | ENSP00000433571.1:n.-8-14324C>T | |
| ENST00000529825.5:c.-208-14324C>T | ENSP00000434263.1:n.-208-14324C>T | |
| ENST00000530357.5:c.-209+13510C>T | ENSP00000436313.1:n.-209+13510C>T | |
| ENST00000531665.5:c.-134-9968C>T | ENSP00000434781.2:n.-134-9968C>T | |
| ENST00000533520.5:c.-134-9968C>T | ENSP00000431488.1:n.-134-9968C>T | |
| ENST00000534544.5:c.-134-9968C>T | ENSP00000431566.1:n.-134-9968C>T | |
| NM_001030272.2:c.-134-9968C>T | NP_001025443.1:n.-134-9968C>T | |
| NM_001030273.2:c.-334-9968C>T | NP_001025444.1:n.-334-9968C>T | |
| NM_001178.5:c.-134-9968C>T | NP_001169.3:n.-134-9968C>T | |
| NM_001297719.1:c.-134-9968C>T | NP_001284648.1:n.-134-9968C>T | |
| NM_001297722.1:c.-134-9968C>T | NP_001284651.1:n.-134-9968C>T | |
| NM_001297724.1:c.-327-9968C>T | NP_001284653.1:n.-327-9968C>T | |
| XM_006718233.2:c.-134-9968C>T | XP_006718296.1:n.-134-9968C>T | |
| XM_006718234.1:c.-334-9968C>T | XP_006718297.1:n.-334-9968C>T | |
| XM_011520105.1:c.-8-14324C>T | XP_011518407.1:n.-8-14324C>T | |
| XM_011520106.1:c.-8-14324C>T | XP_011518408.1:n.-8-14324C>T | |
| XM_011520107.1:c.-8-14324C>T | XP_011518409.1:n.-8-14324C>T | |
| XM_011520108.1:c.-134-9968C>T | XP_011518410.1:n.-134-9968C>T | |
| XM_011520109.1:c.-8-14324C>T | XP_011518411.1:n.-8-14324C>T | |
| XM_011520110.1:c.-334-9968C>T | XP_011518412.1:n.-334-9968C>T | |
| XM_011520111.1:c.-208-14324C>T | XP_011518413.1:n.-208-14324C>T | |
| XM_011520112.1:c.-334-9968C>T | XP_011518414.1:n.-334-9968C>T | |
| XM_011520113.1:c.-334-9968C>T | XP_011518415.1:n.-334-9968C>T | |
| NM_001351804.1:c.-134-9968C>T | NP_001338733.1:n.-134-9968C>T | |
| NM_001351805.1:c.-134-9968C>T | NP_001338734.1:n.-134-9968C>T | |
| NM_001351806.1:c.-134-9968C>T | NP_001338735.1:n.-134-9968C>T | |
| NM_001351807.1:c.-134-9968C>T | NP_001338736.1:n.-134-9968C>T | |
| NM_001351808.1:c.-334-9968C>T | NP_001338737.1:n.-334-9968C>T | |
| NM_001351809.1:c.-309-9968C>T | NP_001338738.1:n.-309-9968C>T | |
| NM_001351810.1:c.-134-9968C>T | NP_001338739.1:n.-134-9968C>T | |
| NM_001351811.1:c.-876-9968C>T | NP_001338740.1:n.-876-9968C>T | |
| NM_001351812.1:c.-309-9968C>T | NP_001338741.1:n.-309-9968C>T | |
| NM_001351813.1:c.-334-9968C>T | NP_001338742.1:n.-334-9968C>T | |
| NM_001351814.1:c.-134-9968C>T | NP_001338743.1:n.-134-9968C>T | |
| NM_001351815.1:c.-8-14324C>T | NP_001338744.1:n.-8-14324C>T | |
| NM_001351816.1:c.-334-9968C>T | NP_001338745.1:n.-334-9968C>T | |
| NM_001351817.1:c.-8-14324C>T | NP_001338746.1:n.-8-14324C>T | |
| NM_001351818.1:c.-334-9968C>T | NP_001338747.1:n.-334-9968C>T | |
| NM_001351819.1:c.-134-9968C>T | NP_001338748.1:n.-134-9968C>T | |
| NM_001351820.1:c.-327-9968C>T | NP_001338749.1:n.-327-9968C>T | |
| NM_001351821.1:c.-209+13510C>T | NP_001338750.1:n.-209+13510C>T | |
| NM_001351822.1:c.-208-14324C>T | NP_001338751.1:n.-208-14324C>T | |
| NM_001351823.1:c.-334-9968C>T | NP_001338752.1:n.-334-9968C>T | |
| NM_001351824.1:c.-8-14324C>T | NP_001338753.1:n.-8-14324C>T | |
| NR_147785.1:n.271-9968C>T | ||
| NR_147786.1:n.271-9968C>T | ||
| NR_147787.1:n.271-9968C>T | ||
| NR_147788.1:n.326-9968C>T | ||
| NR_147789.1:n.271-9968C>T | ||
| NR_147790.1:n.271-9968C>T | ||
| NR_147791.1:n.271-9968C>T | ||
| XM_011520105.3:c.122-14324C>T | XP_011518407.2:n.122-14324C>T | |
| XM_011520107.3:c.122-14324C>T | XP_011518409.2:n.122-14324C>T | |
| XM_017017738.2:c.122-14324C>T | XP_016873227.1:n.122-14324C>T | |
| XM_017017739.2:c.122-14324C>T | XP_016873228.1:n.122-14324C>T | |
| XM_017017741.1:c.-8-14324C>T | XP_016873230.1:n.-8-14324C>T | |
| XM_017017744.1:c.-334-9968C>T | XP_016873233.1:n.-334-9968C>T | |
| XR_001747876.2:n.595-14324C>T | ||
| XR_002957147.1:n.595-14324C>T | ||
| XR_002957148.1:n.595-14324C>T | ||
| NM_001030272.3:c.-134-9968C>T | NP_001025443.1:n.-134-9968C>T | |
| NM_001030273.3:c.-334-9968C>T | NP_001025444.1:n.-334-9968C>T | |
| NM_001178.6:c.-134-9968C>T | NP_001169.3:n.-134-9968C>T | |
| NM_001297719.2:c.-134-9968C>T MANE Select | NP_001284648.1:n.-134-9968C>T | |
| NM_001297722.2:c.-134-9968C>T | NP_001284651.1:n.-134-9968C>T | |
| NM_001297724.2:c.-327-9968C>T | NP_001284653.1:n.-327-9968C>T | |
| NM_001351805.2:c.-134-9968C>T | NP_001338734.1:n.-134-9968C>T | |
| NM_001351806.2:c.-134-9968C>T | NP_001338735.1:n.-134-9968C>T | |
| NM_001351807.2:c.-134-9968C>T | NP_001338736.1:n.-134-9968C>T | |
| NM_001351808.2:c.-334-9968C>T | NP_001338737.1:n.-334-9968C>T | |
| NM_001351809.2:c.-309-9968C>T | NP_001338738.1:n.-309-9968C>T | |
| NM_001351810.2:c.-134-9968C>T | NP_001338739.1:n.-134-9968C>T | |
| NM_001351811.2:c.-876-9968C>T | NP_001338740.1:n.-876-9968C>T | |
| NM_001351812.2:c.-309-9968C>T | NP_001338741.1:n.-309-9968C>T | |
| NM_001351813.2:c.-334-9968C>T | NP_001338742.1:n.-334-9968C>T | |
| NM_001351814.2:c.-134-9968C>T | NP_001338743.1:n.-134-9968C>T | |
| NM_001351815.2:c.-8-14324C>T | NP_001338744.1:n.-8-14324C>T | |
| NM_001351816.2:c.-334-9968C>T | NP_001338745.1:n.-334-9968C>T | |
| NM_001351817.2:c.-8-14324C>T | NP_001338746.1:n.-8-14324C>T | |
| NM_001351818.2:c.-334-9968C>T | NP_001338747.1:n.-334-9968C>T | |
| NM_001351819.2:c.-134-9968C>T | NP_001338748.1:n.-134-9968C>T | |
| NM_001351820.2:c.-327-9968C>T | NP_001338749.1:n.-327-9968C>T | |
| NM_001351821.2:c.-209+13510C>T | NP_001338750.1:n.-209+13510C>T | |
| NM_001351822.2:c.-208-14324C>T | NP_001338751.1:n.-208-14324C>T | |
| NM_001351823.2:c.-334-9968C>T | NP_001338752.1:n.-334-9968C>T | |
| NM_001351824.2:c.-8-14324C>T | NP_001338753.1:n.-8-14324C>T | |
| NR_147785.2:n.208-9968C>T | ||
| NR_147786.2:n.208-9968C>T | ||
| NR_147787.2:n.208-9968C>T | ||
| NR_147788.2:n.263-9968C>T | ||
| NR_147789.2:n.208-9968C>T | ||
| NR_147790.2:n.208-9968C>T | ||
| NR_147791.2:n.208-9968C>T |