Linked Data
ClinVar Variation Id:
1958645
ClinVar RCV Id:
RCV002696181
dbSNP Id:
rs1400316930
gnomAD v2:
8-100847944-A-G
gnomAD v4:
8-99835716-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99835716A>G , CM000670.2:g.99835716A>G | GRCh38 |
| NC_000008.10:g.100847944A>G , CM000670.1:g.100847944A>G | GRCh37 |
| NC_000008.9:g.100917120A>G | NCBI36 |
| NG_007098.2:g.827451A>G , LRG_351:g.827451A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.9995A>G | ENSP00000507923.1:p.Asp3332Gly | |
| ENST00000682358.1:n.10065A>G | ||
| ENST00000683334.1:c.*5677A>G | ENSP00000507369.1:n.*5677A>G | |
| ENST00000357162.7:c.9920A>G MANE Select | ENSP00000349685.2:p.Asp3307Gly | |
| ENST00000358544.7:c.9995A>G MANE Plus Clinical | ENSP00000351346.2:p.Asp3332Gly | |
| ENST00000357162.6:c.9920A>G | ENSP00000349685.2:p.Asp3307Gly | |
| ENST00000358544.6:c.9995A>G | ENSP00000351346.2:p.Asp3332Gly | |
| NM_017890.4:c.9995A>G , LRG_351t1:c.9995A>G | NP_060360.3:p.Asp3332Gly | |
| NM_152564.4:c.9920A>G , LRG_351t2:c.9920A>G | NP_689777.3:p.Asp3307Gly | |
| XM_005250800.2:c.9995A>G | XP_005250857.1:p.Asp3332Gly | |
| XM_005250801.3:c.9995A>G | XP_005250858.1:p.Asp3332Gly | |
| XM_011516848.1:c.9992A>G | XP_011515150.1:p.Asp3331Gly | |
| XM_011516849.1:c.9917A>G | XP_011515151.1:p.Asp3306Gly | |
| XM_011516850.1:c.9617A>G | XP_011515152.1:p.Asp3206Gly | |
| XM_011516851.1:c.6881A>G | XP_011515153.1:p.Asp2294Gly | |
| XM_011516852.1:c.6881A>G | XP_011515154.1:p.Asp2294Gly | |
| XM_011516854.1:c.5774A>G | XP_011515156.1:p.Asp1925Gly | |
| XM_005250800.3:c.9995A>G | XP_005250857.1:p.Asp3332Gly | |
| XM_005250801.5:c.9995A>G | XP_005250858.1:p.Asp3332Gly | |
| XM_011516848.2:c.9992A>G | XP_011515150.1:p.Asp3331Gly | |
| XM_011516849.2:c.9917A>G | XP_011515151.1:p.Asp3306Gly | |
| XM_011516850.2:c.9617A>G | XP_011515152.1:p.Asp3206Gly | |
| XM_011516851.2:c.6881A>G | XP_011515153.1:p.Asp2294Gly | |
| XM_011516852.2:c.6881A>G | XP_011515154.1:p.Asp2294Gly | |
| XM_011516854.2:c.5774A>G | XP_011515156.1:p.Asp1925Gly | |
| XM_017013109.1:c.9800A>G | XP_016868598.1:p.Asp3267Gly | |
| XM_017013111.1:c.6881A>G | XP_016868600.1:p.Asp2294Gly | |
| XM_017013112.1:c.5552A>G | XP_016868601.1:p.Asp1851Gly | |
| XM_024447074.1:c.8780A>G | XP_024302842.1:p.Asp2927Gly | |
| NM_017890.5:c.9995A>G MANE Plus Clinical | NP_060360.3:p.Asp3332Gly | |
| NM_152564.5:c.9920A>G MANE Select | NP_689777.3:p.Asp3307Gly |