Linked Data
ClinVar Variation Id:
1623356
ClinVar RCV Id:
RCV002109994
dbSNP Id:
rs887816498
gnomAD v4:
11-36593518-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36593518A>G , CM000673.2:g.36593518A>G | GRCh38 |
| NC_000011.9:g.36615068A>G , CM000673.1:g.36615068A>G | GRCh37 |
| NC_000011.8:g.36571644A>G | NCBI36 |
| NG_007573.1:g.9719T>C , LRG_99:g.9719T>C | |
| NG_033154.1:g.4026A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527033.6:c.651T>C | ENSP00000436895.2:p.Tyr217= | |
| ENST00000529083.2:c.651T>C | ENSP00000436327.2:p.Tyr217= | |
| ENST00000532616.2:c.651T>C | ENSP00000432174.2:p.Tyr217= | |
| ENST00000311485.8:c.651T>C MANE Select | ENSP00000308620.4:p.Tyr217= | |
| ENST00000311485.7:c.651T>C | ENSP00000308620.3:p.Tyr217= | |
| ENST00000524423.1:n.131+4584T>C | ||
| ENST00000618712.4:c.651T>C | ENSP00000478672.1:p.Tyr217= | |
| NM_000536.3:c.651T>C | NP_000527.2:p.Tyr217= | |
| NM_001243785.1:c.651T>C | NP_001230714.1:p.Tyr217= | |
| NM_001243786.1:c.651T>C | NP_001230715.1:p.Tyr217= | |
| NM_000536.4:c.651T>C MANE Select | NP_000527.2:p.Tyr217= | |
| NM_001243785.2:c.651T>C | NP_001230714.1:p.Tyr217= | |
| NM_001243786.2:c.651T>C | NP_001230715.1:p.Tyr217= |