Linked Data
ClinVar Variation Id:
1088505
ClinVar RCV Id:
RCV001407032
dbSNP Id:
rs368808756
ExAC:
11:36615044 G / C
gnomAD v2:
11-36615044-G-C
gnomAD v3:
11-36593494-G-C
gnomAD v4:
11-36593494-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36593494G>C , CM000673.2:g.36593494G>C | GRCh38 |
| NC_000011.9:g.36615044G>C , CM000673.1:g.36615044G>C | GRCh37 |
| NC_000011.8:g.36571620G>C | NCBI36 |
| NG_007573.1:g.9743C>G , LRG_99:g.9743C>G | |
| NG_033154.1:g.4002G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527033.6:c.675C>G | ENSP00000436895.2:p.Ala225= | |
| ENST00000529083.2:c.675C>G | ENSP00000436327.2:p.Ala225= | |
| ENST00000532616.2:c.675C>G | ENSP00000432174.2:p.Ala225= | |
| ENST00000311485.8:c.675C>G MANE Select | ENSP00000308620.4:p.Ala225= | |
| ENST00000311485.7:c.675C>G | ENSP00000308620.3:p.Ala225= | |
| ENST00000524423.1:n.131+4608C>G | ||
| ENST00000618712.4:c.675C>G | ENSP00000478672.1:p.Ala225= | |
| NM_000536.3:c.675C>G | NP_000527.2:p.Ala225= | |
| NM_001243785.1:c.675C>G | NP_001230714.1:p.Ala225= | |
| NM_001243786.1:c.675C>G | NP_001230715.1:p.Ala225= | |
| NM_000536.4:c.675C>G MANE Select | NP_000527.2:p.Ala225= | |
| NM_001243785.2:c.675C>G | NP_001230714.1:p.Ala225= | |
| NM_001243786.2:c.675C>G | NP_001230715.1:p.Ala225= |