Linked Data
ClinVar Variation Id:
379881
dbSNP Id:
rs1057520769
gnomAD v2:
8-100866352-A-T
gnomAD v4:
8-99854124-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99854124A>T , CM000670.2:g.99854124A>T | GRCh38 |
| NC_000008.10:g.100866352A>T , CM000670.1:g.100866352A>T | GRCh37 |
| NC_000008.9:g.100935528A>T | NCBI36 |
| NG_007098.2:g.845859A>T , LRG_351:g.845859A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682153.1:c.10810A>T | ENSP00000507923.1:p.Lys3604Ter | |
| ENST00000682358.1:n.10880A>T | ||
| ENST00000683334.1:c.*6492A>T | ENSP00000507369.1:n.*6492A>T | |
| ENST00000357162.7:c.10735A>T MANE Select | ENSP00000349685.2:p.Lys3579Ter | |
| ENST00000358544.7:c.10810A>T MANE Plus Clinical | ENSP00000351346.2:p.Lys3604Ter | |
| ENST00000357162.6:c.10735A>T | ENSP00000349685.2:p.Lys3579Ter | |
| ENST00000358544.6:c.10810A>T | ENSP00000351346.2:p.Lys3604Ter | |
| NM_017890.4:c.10810A>T , LRG_351t1:c.10810A>T | NP_060360.3:p.Lys3604Ter | |
| NM_152564.4:c.10735A>T , LRG_351t2:c.10735A>T | NP_689777.3:p.Lys3579Ter | |
| XM_005250800.2:c.10810A>T | XP_005250857.1:p.Lys3604Ter | |
| XM_005250801.3:c.10810A>T | XP_005250858.1:p.Lys3604Ter | |
| XM_011516848.1:c.10807A>T | XP_011515150.1:p.Lys3603Ter | |
| XM_011516849.1:c.10732A>T | XP_011515151.1:p.Lys3578Ter | |
| XM_011516850.1:c.10432A>T | XP_011515152.1:p.Lys3478Ter | |
| XM_011516851.1:c.7696A>T | XP_011515153.1:p.Lys2566Ter | |
| XM_011516852.1:c.7696A>T | XP_011515154.1:p.Lys2566Ter | |
| XM_011516854.1:c.6589A>T | XP_011515156.1:p.Lys2197Ter | |
| XM_005250800.3:c.10810A>T | XP_005250857.1:p.Lys3604Ter | |
| XM_005250801.5:c.10810A>T | XP_005250858.1:p.Lys3604Ter | |
| XM_011516848.2:c.10807A>T | XP_011515150.1:p.Lys3603Ter | |
| XM_011516849.2:c.10732A>T | XP_011515151.1:p.Lys3578Ter | |
| XM_011516850.2:c.10432A>T | XP_011515152.1:p.Lys3478Ter | |
| XM_011516851.2:c.7696A>T | XP_011515153.1:p.Lys2566Ter | |
| XM_011516852.2:c.7696A>T | XP_011515154.1:p.Lys2566Ter | |
| XM_011516854.2:c.6589A>T | XP_011515156.1:p.Lys2197Ter | |
| XM_017013109.1:c.10615A>T | XP_016868598.1:p.Lys3539Ter | |
| XM_017013111.1:c.7696A>T | XP_016868600.1:p.Lys2566Ter | |
| XM_017013112.1:c.6367A>T | XP_016868601.1:p.Lys2123Ter | |
| XM_024447074.1:c.9595A>T | XP_024302842.1:p.Lys3199Ter | |
| NM_017890.5:c.10810A>T MANE Plus Clinical | NP_060360.3:p.Lys3604Ter | |
| NM_152564.5:c.10735A>T MANE Select | NP_689777.3:p.Lys3579Ter |