Linked Data
ClinVar Variation Id:
1046144
ClinVar RCV Id:
RCV001350661
dbSNP Id:
rs779240577
ExAC:
7:128481232 A / G
gnomAD v2:
7-128481232-A-G
gnomAD v3:
7-128841178-A-G
gnomAD v4:
7-128841178-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128841178A>G , CM000669.2:g.128841178A>G | GRCh38 |
| NC_000007.13:g.128481232A>G , CM000669.1:g.128481232A>G | GRCh37 |
| NC_000007.12:g.128268468A>G | NCBI36 |
| NG_011807.1:g.15750A>G , LRG_870:g.15750A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.1822A>G MANE Select | ENSP00000327145.8:p.Ile608Val | |
| ENST00000325888.12:c.1822A>G | ENSP00000327145.8:p.Ile608Val | |
| ENST00000346177.6:c.1822A>G | ENSP00000344002.6:p.Ile608Val | |
| NM_001127487.1:c.1822A>G | NP_001120959.1:p.Ile608Val | |
| NM_001458.4:c.1822A>G , LRG_870t1:c.1822A>G | NP_001449.3:p.Ile608Val | |
| NM_001127487.2:c.1822A>G | NP_001120959.1:p.Ile608Val | |
| NM_001458.5:c.1822A>G MANE Select | NP_001449.3:p.Ile608Val |