Linked Data
ClinVar Variation Id:
1925499
ClinVar RCV Id:
RCV002626009
dbSNP Id:
rs377719816
ExAC:
7:12269422 A / G
gnomAD v2:
7-12269422-A-G
gnomAD v4:
7-12229796-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.12229796A>G , CM000669.2:g.12229796A>G | GRCh38 |
| NC_000007.13:g.12269422A>G , CM000669.1:g.12269422A>G | GRCh37 |
| NC_000007.12:g.12235947A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444443.6:c.559A>G | ENSP00000401302.2:p.Ile187Val | |
| ENST00000704347.1:c.282-593A>G | ENSP00000515858.1:n.282-593A>G | |
| ENST00000704348.1:c.442-593A>G | ENSP00000515859.1:n.442-593A>G | |
| ENST00000704349.1:c.442-593A>G | ENSP00000515860.1:n.442-593A>G | |
| ENST00000704416.1:c.265A>G | ENSP00000515892.1:p.Ile89Val | |
| ENST00000704417.1:c.484A>G | ENSP00000515893.1:p.Ile162Val | |
| ENST00000704455.1:c.559A>G | ENSP00000515905.1:p.Ile187Val | |
| ENST00000704457.1:c.559A>G | ENSP00000515907.1:p.Ile187Val | |
| ENST00000396668.8:c.559A>G MANE Select | ENSP00000379902.3:p.Ile187Val | |
| ENST00000396667.7:c.559A>G | ENSP00000379901.2:p.Ile187Val | |
| ENST00000396668.7:c.559A>G | ENSP00000379902.3:p.Ile187Val | |
| ENST00000420833.5:c.*445A>G | ENSP00000391016.1:n.*445A>G | |
| ENST00000492762.1:n.49A>G | ||
| NM_001134232.1:c.559A>G | NP_001127704.1:p.Ile187Val | |
| NM_018374.3:c.559A>G | NP_060844.2:p.Ile187Val | |
| XM_005249789.1:c.559A>G | XP_005249846.1:p.Ile187Val | |
| NM_001134232.2:c.559A>G MANE Select | NP_001127704.1:p.Ile187Val | |
| NM_018374.4:c.559A>G | NP_060844.2:p.Ile187Val |