Linked Data
ClinVar Variation Id:
1509525
ClinVar RCV Id:
RCV002040695
dbSNP Id:
rs1808506817
gnomAD v4:
7-128845141-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128845141A>G , CM000669.2:g.128845141A>G | GRCh38 |
| NC_000007.13:g.128485195A>G , CM000669.1:g.128485195A>G | GRCh37 |
| NC_000007.12:g.128272431A>G | NCBI36 |
| NG_011807.1:g.19713A>G , LRG_870:g.19713A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.3676A>G MANE Select | ENSP00000327145.8:p.Ile1226Val | |
| ENST00000325888.12:c.3676A>G | ENSP00000327145.8:p.Ile1226Val | |
| ENST00000346177.6:c.3676A>G | ENSP00000344002.6:p.Ile1226Val | |
| NM_001127487.1:c.3676A>G | NP_001120959.1:p.Ile1226Val | |
| NM_001458.4:c.3676A>G , LRG_870t1:c.3676A>G | NP_001449.3:p.Ile1226Val | |
| NM_001127487.2:c.3676A>G | NP_001120959.1:p.Ile1226Val | |
| NM_001458.5:c.3676A>G MANE Select | NP_001449.3:p.Ile1226Val |