Linked Data
ClinVar Variation Id:
2114972
ClinVar RCV Id:
RCV003043053
gnomAD v4:
8-99642065-C-T
MyVariant Identifiers:
chr8:g.100654293C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99642065C>T , CM000670.2:g.99642065C>T | GRCh38 |
| NC_000008.10:g.100654293C>T , CM000670.1:g.100654293C>T | GRCh37 |
| NC_000008.9:g.100723469C>T | NCBI36 |
| NG_007098.2:g.633800C>T , LRG_351:g.633800C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.5550C>T | ENSP00000507923.1:p.Thr1850= | |
| ENST00000682358.1:n.5620C>T | ||
| ENST00000683334.1:c.*1232C>T | ENSP00000507369.1:n.*1232C>T | |
| ENST00000357162.7:c.5475C>T MANE Select | ENSP00000349685.2:p.Thr1825= | |
| ENST00000358544.7:c.5550C>T MANE Plus Clinical | ENSP00000351346.2:p.Thr1850= | |
| ENST00000357162.6:c.5475C>T | ENSP00000349685.2:p.Thr1825= | |
| ENST00000358544.6:c.5550C>T | ENSP00000351346.2:p.Thr1850= | |
| NM_017890.4:c.5550C>T , LRG_351t1:c.5550C>T | NP_060360.3:p.Thr1850= | |
| NM_152564.4:c.5475C>T , LRG_351t2:c.5475C>T | NP_689777.3:p.Thr1825= | |
| XM_005250800.2:c.5550C>T | XP_005250857.1:p.Thr1850= | |
| XM_005250801.3:c.5550C>T | XP_005250858.1:p.Thr1850= | |
| XM_011516848.1:c.5547C>T | XP_011515150.1:p.Thr1849= | |
| XM_011516849.1:c.5472C>T | XP_011515151.1:p.Thr1824= | |
| XM_011516850.1:c.5172C>T | XP_011515152.1:p.Thr1724= | |
| XM_011516851.1:c.2436C>T | XP_011515153.1:p.Thr812= | |
| XM_011516852.1:c.2436C>T | XP_011515154.1:p.Thr812= | |
| XM_011516853.1:c.5550C>T | XP_011515155.1:p.Thr1850= | |
| XM_011516854.1:c.1329C>T | XP_011515156.1:p.Thr443= | |
| XM_005250800.3:c.5550C>T | XP_005250857.1:p.Thr1850= | |
| XM_005250801.5:c.5550C>T | XP_005250858.1:p.Thr1850= | |
| XM_011516848.2:c.5547C>T | XP_011515150.1:p.Thr1849= | |
| XM_011516849.2:c.5472C>T | XP_011515151.1:p.Thr1824= | |
| XM_011516850.2:c.5172C>T | XP_011515152.1:p.Thr1724= | |
| XM_011516851.2:c.2436C>T | XP_011515153.1:p.Thr812= | |
| XM_011516852.2:c.2436C>T | XP_011515154.1:p.Thr812= | |
| XM_011516853.2:c.5550C>T | XP_011515155.1:p.Thr1850= | |
| XM_011516854.2:c.1329C>T | XP_011515156.1:p.Thr443= | |
| XM_017013109.1:c.5355C>T | XP_016868598.1:p.Thr1785= | |
| XM_017013111.1:c.2436C>T | XP_016868600.1:p.Thr812= | |
| XM_017013112.1:c.1107C>T | XP_016868601.1:p.Thr369= | |
| XM_024447074.1:c.4335C>T | XP_024302842.1:p.Thr1445= | |
| XR_001745482.2:n.5511C>T | ||
| NM_017890.5:c.5550C>T MANE Plus Clinical | NP_060360.3:p.Thr1850= | |
| NM_152564.5:c.5475C>T MANE Select | NP_689777.3:p.Thr1825= |