Linked Data
ClinVar Variation Id:
1364619
ClinVar RCV Id:
RCV001905492
dbSNP Id:
rs2130962939
gnomAD v4:
8-99868325-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99868325A>T , CM000670.2:g.99868325A>T | GRCh38 |
| NC_000008.10:g.100880553A>T , CM000670.1:g.100880553A>T | GRCh37 |
| NC_000008.9:g.100949729A>T | NCBI36 |
| NG_007098.2:g.860060A>T , LRG_351:g.860060A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*421A>T | ENSP00000507923.1:n.*421A>T | |
| ENST00000682358.1:n.11397A>T | ||
| ENST00000683334.1:c.*7009A>T | ENSP00000507369.1:n.*7009A>T | |
| ENST00000357162.7:c.11252A>T MANE Select | ENSP00000349685.2:p.Asn3751Ile | |
| ENST00000358544.7:c.11327A>T MANE Plus Clinical | ENSP00000351346.2:p.Asn3776Ile | |
| ENST00000357162.6:c.11252A>T | ENSP00000349685.2:p.Asn3751Ile | |
| ENST00000358544.6:c.11327A>T | ENSP00000351346.2:p.Asn3776Ile | |
| ENST00000493587.1:n.269A>T | ||
| NM_017890.4:c.11327A>T , LRG_351t1:c.11327A>T | NP_060360.3:p.Asn3776Ile | |
| NM_152564.4:c.11252A>T , LRG_351t2:c.11252A>T | NP_689777.3:p.Asn3751Ile | |
| XM_005250800.2:c.11327A>T | XP_005250857.1:p.Asn3776Ile | |
| XM_005250801.3:c.11327A>T | XP_005250858.1:p.Asn3776Ile | |
| XM_011516848.1:c.11324A>T | XP_011515150.1:p.Asn3775Ile | |
| XM_011516849.1:c.11249A>T | XP_011515151.1:p.Asn3750Ile | |
| XM_011516850.1:c.10949A>T | XP_011515152.1:p.Asn3650Ile | |
| XM_011516851.1:c.8213A>T | XP_011515153.1:p.Asn2738Ile | |
| XM_011516852.1:c.8213A>T | XP_011515154.1:p.Asn2738Ile | |
| XM_011516854.1:c.7106A>T | XP_011515156.1:p.Asn2369Ile | |
| XM_005250800.3:c.11327A>T | XP_005250857.1:p.Asn3776Ile | |
| XM_005250801.5:c.11327A>T | XP_005250858.1:p.Asn3776Ile | |
| XM_011516848.2:c.11324A>T | XP_011515150.1:p.Asn3775Ile | |
| XM_011516849.2:c.11249A>T | XP_011515151.1:p.Asn3750Ile | |
| XM_011516850.2:c.10949A>T | XP_011515152.1:p.Asn3650Ile | |
| XM_011516851.2:c.8213A>T | XP_011515153.1:p.Asn2738Ile | |
| XM_011516852.2:c.8213A>T | XP_011515154.1:p.Asn2738Ile | |
| XM_011516854.2:c.7106A>T | XP_011515156.1:p.Asn2369Ile | |
| XM_017013109.1:c.11132A>T | XP_016868598.1:p.Asn3711Ile | |
| XM_017013111.1:c.8213A>T | XP_016868600.1:p.Asn2738Ile | |
| XM_017013112.1:c.6884A>T | XP_016868601.1:p.Asn2295Ile | |
| XM_024447074.1:c.10112A>T | XP_024302842.1:p.Asn3371Ile | |
| NM_017890.5:c.11327A>T MANE Plus Clinical | NP_060360.3:p.Asn3776Ile | |
| NM_152564.5:c.11252A>T MANE Select | NP_689777.3:p.Asn3751Ile |