Linked Data
ClinVar Variation Id:
2827
ClinVar RCV Id:
RCV002512689
dbSNP Id:
rs120074155
gnomAD v4:
8-99818473-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99818473T>C , CM000670.2:g.99818473T>C | GRCh38 |
| NC_000008.10:g.100830701T>C , CM000670.1:g.100830701T>C | GRCh37 |
| NC_000008.9:g.100899877T>C | NCBI36 |
| NG_007098.2:g.810208T>C , LRG_351:g.810208T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682153.1:c.8459T>C | ENSP00000507923.1:p.Ile2820Thr | |
| ENST00000682358.1:n.8529T>C | ||
| ENST00000683334.1:c.*4141T>C | ENSP00000507369.1:n.*4141T>C | |
| ENST00000357162.7:c.8384T>C MANE Select | ENSP00000349685.2:p.Ile2795Thr | |
| ENST00000358544.7:c.8459T>C MANE Plus Clinical | ENSP00000351346.2:p.Ile2820Thr | |
| ENST00000357162.6:c.8384T>C | ENSP00000349685.2:p.Ile2795Thr | |
| ENST00000358544.6:c.8459T>C | ENSP00000351346.2:p.Ile2820Thr | |
| NM_017890.4:c.8459T>C , LRG_351t1:c.8459T>C | NP_060360.3:p.Ile2820Thr | |
| NM_152564.4:c.8384T>C , LRG_351t2:c.8384T>C | NP_689777.3:p.Ile2795Thr | |
| XM_005250800.2:c.8459T>C | XP_005250857.1:p.Ile2820Thr | |
| XM_005250801.3:c.8459T>C | XP_005250858.1:p.Ile2820Thr | |
| XM_011516848.1:c.8456T>C | XP_011515150.1:p.Ile2819Thr | |
| XM_011516849.1:c.8381T>C | XP_011515151.1:p.Ile2794Thr | |
| XM_011516850.1:c.8081T>C | XP_011515152.1:p.Ile2694Thr | |
| XM_011516851.1:c.5345T>C | XP_011515153.1:p.Ile1782Thr | |
| XM_011516852.1:c.5345T>C | XP_011515154.1:p.Ile1782Thr | |
| XM_011516854.1:c.4238T>C | XP_011515156.1:p.Ile1413Thr | |
| XM_005250800.3:c.8459T>C | XP_005250857.1:p.Ile2820Thr | |
| XM_005250801.5:c.8459T>C | XP_005250858.1:p.Ile2820Thr | |
| XM_011516848.2:c.8456T>C | XP_011515150.1:p.Ile2819Thr | |
| XM_011516849.2:c.8381T>C | XP_011515151.1:p.Ile2794Thr | |
| XM_011516850.2:c.8081T>C | XP_011515152.1:p.Ile2694Thr | |
| XM_011516851.2:c.5345T>C | XP_011515153.1:p.Ile1782Thr | |
| XM_011516852.2:c.5345T>C | XP_011515154.1:p.Ile1782Thr | |
| XM_011516854.2:c.4238T>C | XP_011515156.1:p.Ile1413Thr | |
| XM_017013109.1:c.8264T>C | XP_016868598.1:p.Ile2755Thr | |
| XM_017013111.1:c.5345T>C | XP_016868600.1:p.Ile1782Thr | |
| XM_017013112.1:c.4016T>C | XP_016868601.1:p.Ile1339Thr | |
| XM_024447074.1:c.7244T>C | XP_024302842.1:p.Ile2415Thr | |
| NM_017890.5:c.8459T>C MANE Plus Clinical | NP_060360.3:p.Ile2820Thr | |
| NM_152564.5:c.8384T>C MANE Select | NP_689777.3:p.Ile2795Thr |