Linked Data
ClinVar Variation Id:
1146843
ClinVar RCV Id:
RCV001486200
dbSNP Id:
rs1386160206
gnomAD v2:
8-100711747-C-T
gnomAD v3:
8-99699519-C-T
gnomAD v4:
8-99699519-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99699519C>T , CM000670.2:g.99699519C>T | GRCh38 |
| NC_000008.10:g.100711747C>T , CM000670.1:g.100711747C>T | GRCh37 |
| NC_000008.9:g.100780923C>T | NCBI36 |
| NG_007098.2:g.691254C>T , LRG_351:g.691254C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.6122-6C>T | ENSP00000507923.1:n.6122-6C>T | |
| ENST00000682358.1:n.6192-6C>T | ||
| ENST00000683334.1:c.*1804-6C>T | ENSP00000507369.1:n.*1804-6C>T | |
| ENST00000357162.7:c.6047-6C>T MANE Select | ENSP00000349685.2:n.6047-6C>T | |
| ENST00000358544.7:c.6122-6C>T MANE Plus Clinical | ENSP00000351346.2:n.6122-6C>T | |
| ENST00000357162.6:c.6047-6C>T | ENSP00000349685.2:n.6047-6C>T | |
| ENST00000358544.6:c.6122-6C>T | ENSP00000351346.2:n.6122-6C>T | |
| NM_017890.4:c.6122-6C>T , LRG_351t1:c.6122-6C>T | NP_060360.3:n.6122-6C>T | |
| NM_152564.4:c.6047-6C>T , LRG_351t2:c.6047-6C>T | NP_689777.3:n.6047-6C>T | |
| XM_005250800.2:c.6122-6C>T | XP_005250857.1:n.6122-6C>T | |
| XM_005250801.3:c.6122-6C>T | XP_005250858.1:n.6122-6C>T | |
| XM_011516848.1:c.6119-6C>T | XP_011515150.1:n.6119-6C>T | |
| XM_011516849.1:c.6044-6C>T | XP_011515151.1:n.6044-6C>T | |
| XM_011516850.1:c.5744-6C>T | XP_011515152.1:n.5744-6C>T | |
| XM_011516851.1:c.3008-6C>T | XP_011515153.1:n.3008-6C>T | |
| XM_011516852.1:c.3008-6C>T | XP_011515154.1:n.3008-6C>T | |
| XM_011516853.1:c.6122-6C>T | XP_011515155.1:n.6122-6C>T | |
| XM_011516854.1:c.1901-6C>T | XP_011515156.1:n.1901-6C>T | |
| XM_005250800.3:c.6122-6C>T | XP_005250857.1:n.6122-6C>T | |
| XM_005250801.5:c.6122-6C>T | XP_005250858.1:n.6122-6C>T | |
| XM_011516848.2:c.6119-6C>T | XP_011515150.1:n.6119-6C>T | |
| XM_011516849.2:c.6044-6C>T | XP_011515151.1:n.6044-6C>T | |
| XM_011516850.2:c.5744-6C>T | XP_011515152.1:n.5744-6C>T | |
| XM_011516851.2:c.3008-6C>T | XP_011515153.1:n.3008-6C>T | |
| XM_011516852.2:c.3008-6C>T | XP_011515154.1:n.3008-6C>T | |
| XM_011516853.2:c.6122-6C>T | XP_011515155.1:n.6122-6C>T | |
| XM_011516854.2:c.1901-6C>T | XP_011515156.1:n.1901-6C>T | |
| XM_017013109.1:c.5927-6C>T | XP_016868598.1:n.5927-6C>T | |
| XM_017013111.1:c.3008-6C>T | XP_016868600.1:n.3008-6C>T | |
| XM_017013112.1:c.1679-6C>T | XP_016868601.1:n.1679-6C>T | |
| XM_024447074.1:c.4907-6C>T | XP_024302842.1:n.4907-6C>T | |
| XR_001745482.2:n.6083-6C>T | ||
| NM_017890.5:c.6122-6C>T MANE Plus Clinical | NP_060360.3:n.6122-6C>T | |
| NM_152564.5:c.6047-6C>T MANE Select | NP_689777.3:n.6047-6C>T |