Linked Data
ClinVar Variation Id:
56696
ClinVar RCV Id:
RCV000050109
dbSNP Id:
rs386834115
gnomAD v4:
8-99819410-A-G
PubMed:
PMID:15141358
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99819410A>G , CM000670.2:g.99819410A>G | GRCh38 |
| NC_000008.10:g.100831638A>G , CM000670.1:g.100831638A>G | GRCh37 |
| NC_000008.9:g.100900814A>G | NCBI36 |
| NG_007098.2:g.811145A>G , LRG_351:g.811145A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682153.1:c.8697-2A>G | ENSP00000507923.1:n.8697-2A>G | |
| ENST00000682358.1:n.8767-2A>G | ||
| ENST00000683334.1:c.*4379-2A>G | ENSP00000507369.1:n.*4379-2A>G | |
| ENST00000357162.7:c.8622-2A>G MANE Select | ENSP00000349685.2:n.8622-2A>G | |
| ENST00000358544.7:c.8697-2A>G MANE Plus Clinical | ENSP00000351346.2:n.8697-2A>G | |
| ENST00000357162.6:c.8622-2A>G | ENSP00000349685.2:n.8622-2A>G | |
| ENST00000358544.6:c.8697-2A>G | ENSP00000351346.2:n.8697-2A>G | |
| NM_017890.4:c.8697-2A>G , LRG_351t1:c.8697-2A>G | NP_060360.3:n.8697-2A>G | |
| NM_152564.4:c.8622-2A>G , LRG_351t2:c.8622-2A>G | NP_689777.3:n.8622-2A>G | |
| XM_005250800.2:c.8697-2A>G | XP_005250857.1:n.8697-2A>G | |
| XM_005250801.3:c.8697-2A>G | XP_005250858.1:n.8697-2A>G | |
| XM_011516848.1:c.8694-2A>G | XP_011515150.1:n.8694-2A>G | |
| XM_011516849.1:c.8619-2A>G | XP_011515151.1:n.8619-2A>G | |
| XM_011516850.1:c.8319-2A>G | XP_011515152.1:n.8319-2A>G | |
| XM_011516851.1:c.5583-2A>G | XP_011515153.1:n.5583-2A>G | |
| XM_011516852.1:c.5583-2A>G | XP_011515154.1:n.5583-2A>G | |
| XM_011516854.1:c.4476-2A>G | XP_011515156.1:n.4476-2A>G | |
| XM_005250800.3:c.8697-2A>G | XP_005250857.1:n.8697-2A>G | |
| XM_005250801.5:c.8697-2A>G | XP_005250858.1:n.8697-2A>G | |
| XM_011516848.2:c.8694-2A>G | XP_011515150.1:n.8694-2A>G | |
| XM_011516849.2:c.8619-2A>G | XP_011515151.1:n.8619-2A>G | |
| XM_011516850.2:c.8319-2A>G | XP_011515152.1:n.8319-2A>G | |
| XM_011516851.2:c.5583-2A>G | XP_011515153.1:n.5583-2A>G | |
| XM_011516852.2:c.5583-2A>G | XP_011515154.1:n.5583-2A>G | |
| XM_011516854.2:c.4476-2A>G | XP_011515156.1:n.4476-2A>G | |
| XM_017013109.1:c.8502-2A>G | XP_016868598.1:n.8502-2A>G | |
| XM_017013111.1:c.5583-2A>G | XP_016868600.1:n.5583-2A>G | |
| XM_017013112.1:c.4254-2A>G | XP_016868601.1:n.4254-2A>G | |
| XM_024447074.1:c.7482-2A>G | XP_024302842.1:n.7482-2A>G | |
| NM_017890.5:c.8697-2A>G MANE Plus Clinical | NP_060360.3:n.8697-2A>G | |
| NM_152564.5:c.8622-2A>G MANE Select | NP_689777.3:n.8622-2A>G |