Linked Data
ClinVar Variation Id:
522192
ClinVar RCV Id:
RCV000624960
dbSNP Id:
rs112780006
ExAC:
8:100568664 C / T
gnomAD v2:
8-100568664-C-T
gnomAD v3:
8-99556436-C-T
gnomAD v4:
8-99556436-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99556436C>T , CM000670.2:g.99556436C>T | GRCh38 |
| NC_000008.10:g.100568664C>T , CM000670.1:g.100568664C>T | GRCh37 |
| NC_000008.9:g.100637840C>T | NCBI36 |
| NG_007098.2:g.548171C>T , LRG_351:g.548171C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.4821-14C>T | ENSP00000507923.1:n.4821-14C>T | |
| ENST00000682358.1:n.4891-14C>T | ||
| ENST00000683334.1:c.*503-14C>T | ENSP00000507369.1:n.*503-14C>T | |
| ENST00000357162.7:c.4746-14C>T MANE Select | ENSP00000349685.2:n.4746-14C>T | |
| ENST00000358544.7:c.4821-14C>T MANE Plus Clinical | ENSP00000351346.2:n.4821-14C>T | |
| ENST00000357162.6:c.4746-14C>T | ENSP00000349685.2:n.4746-14C>T | |
| ENST00000358544.6:c.4821-14C>T | ENSP00000351346.2:n.4821-14C>T | |
| ENST00000496144.5:c.*604-14C>T | ENSP00000430900.1:n.*604-14C>T | |
| ENST00000521559.1:c.113-19222C>T | ||
| NM_017890.4:c.4821-14C>T , LRG_351t1:c.4821-14C>T | NP_060360.3:n.4821-14C>T | |
| NM_152564.4:c.4746-14C>T , LRG_351t2:c.4746-14C>T | NP_689777.3:n.4746-14C>T | |
| XM_005250800.2:c.4821-14C>T | XP_005250857.1:n.4821-14C>T | |
| XM_005250801.3:c.4821-14C>T | XP_005250858.1:n.4821-14C>T | |
| XM_006716510.2:c.4821-14C>T | XP_006716573.1:n.4821-14C>T | |
| XM_011516848.1:c.4818-14C>T | XP_011515150.1:n.4818-14C>T | |
| XM_011516849.1:c.4743-14C>T | XP_011515151.1:n.4743-14C>T | |
| XM_011516850.1:c.4443-14C>T | XP_011515152.1:n.4443-14C>T | |
| XM_011516851.1:c.1707-14C>T | XP_011515153.1:n.1707-14C>T | |
| XM_011516852.1:c.1707-14C>T | XP_011515154.1:n.1707-14C>T | |
| XM_011516853.1:c.4821-14C>T | XP_011515155.1:n.4821-14C>T | |
| XM_011516854.1:c.600-14C>T | XP_011515156.1:n.600-14C>T | |
| XR_928301.1:n.4924-14C>T | ||
| XR_928302.1:n.4924-14C>T | ||
| XR_928303.1:n.4924-14C>T | ||
| XR_928304.1:n.4991-14C>T | ||
| XM_005250800.3:c.4821-14C>T | XP_005250857.1:n.4821-14C>T | |
| XM_005250801.5:c.4821-14C>T | XP_005250858.1:n.4821-14C>T | |
| XM_006716510.3:c.4821-14C>T | XP_006716573.1:n.4821-14C>T | |
| XM_011516848.2:c.4818-14C>T | XP_011515150.1:n.4818-14C>T | |
| XM_011516849.2:c.4743-14C>T | XP_011515151.1:n.4743-14C>T | |
| XM_011516850.2:c.4443-14C>T | XP_011515152.1:n.4443-14C>T | |
| XM_011516851.2:c.1707-14C>T | XP_011515153.1:n.1707-14C>T | |
| XM_011516852.2:c.1707-14C>T | XP_011515154.1:n.1707-14C>T | |
| XM_011516853.2:c.4821-14C>T | XP_011515155.1:n.4821-14C>T | |
| XM_011516854.2:c.600-14C>T | XP_011515156.1:n.600-14C>T | |
| XM_017013109.1:c.4626-14C>T | XP_016868598.1:n.4626-14C>T | |
| XM_017013111.1:c.1707-14C>T | XP_016868600.1:n.1707-14C>T | |
| XM_017013112.1:c.378-14C>T | XP_016868601.1:n.378-14C>T | |
| XM_024447074.1:c.3606-14C>T | XP_024302842.1:n.3606-14C>T | |
| XR_001745482.2:n.4782-14C>T | ||
| XR_928302.2:n.4924-14C>T | ||
| NM_017890.5:c.4821-14C>T MANE Plus Clinical | NP_060360.3:n.4821-14C>T | |
| NM_152564.5:c.4746-14C>T MANE Select | NP_689777.3:n.4746-14C>T |