Linked Data
ClinVar Variation Id:
2937155
ClinVar RCV Id:
RCV003791345
dbSNP Id:
rs145031483
ExAC:
11:36615035 G / A
gnomAD v2:
11-36615035-G-A
gnomAD v3:
11-36593485-G-A
gnomAD v4:
11-36593485-G-A
COSMIC:
COSM106324
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36593485G>A , CM000673.2:g.36593485G>A | GRCh38 |
| NC_000011.9:g.36615035G>A , CM000673.1:g.36615035G>A | GRCh37 |
| NC_000011.8:g.36571611G>A | NCBI36 |
| NG_007573.1:g.9752C>T , LRG_99:g.9752C>T | |
| NG_033154.1:g.3993G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527033.6:c.684C>T | ENSP00000436895.2:p.Ile228= | |
| ENST00000529083.2:c.684C>T | ENSP00000436327.2:p.Ile228= | |
| ENST00000532616.2:c.684C>T | ENSP00000432174.2:p.Ile228= | |
| ENST00000311485.8:c.684C>T MANE Select | ENSP00000308620.4:p.Ile228= | |
| ENST00000311485.7:c.684C>T | ENSP00000308620.3:p.Ile228= | |
| ENST00000524423.1:n.131+4617C>T | ||
| ENST00000618712.4:c.684C>T | ENSP00000478672.1:p.Ile228= | |
| NM_000536.3:c.684C>T | NP_000527.2:p.Ile228= | |
| NM_001243785.1:c.684C>T | NP_001230714.1:p.Ile228= | |
| NM_001243786.1:c.684C>T | NP_001230715.1:p.Ile228= | |
| NM_000536.4:c.684C>T MANE Select | NP_000527.2:p.Ile228= | |
| NM_001243785.2:c.684C>T | NP_001230714.1:p.Ile228= | |
| NM_001243786.2:c.684C>T | NP_001230715.1:p.Ile228= |