Linked Data
ClinVar Variation Id:
496618
dbSNP Id:
rs148508754
gnomAD v2:
11-36615615-C-A
gnomAD v3:
11-36594065-C-A
gnomAD v4:
11-36594065-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36594065C>A , CM000673.2:g.36594065C>A | GRCh38 |
| NC_000011.9:g.36615615C>A , CM000673.1:g.36615615C>A | GRCh37 |
| NC_000011.8:g.36572191C>A | NCBI36 |
| NG_007573.1:g.9172G>T , LRG_99:g.9172G>T | |
| NG_033154.1:g.4573C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527033.6:c.104G>T | ENSP00000436895.2:p.Gly35Val | |
| ENST00000529083.2:c.104G>T | ENSP00000436327.2:p.Gly35Val | |
| ENST00000532616.2:c.104G>T | ENSP00000432174.2:p.Gly35Val | |
| ENST00000311485.8:c.104G>T MANE Select | ENSP00000308620.4:p.Gly35Val | |
| ENST00000311485.7:c.104G>T | ENSP00000308620.3:p.Gly35Val | |
| ENST00000524423.1:n.131+4037G>T | ||
| ENST00000527033.5:c.104G>T | ENSP00000436895.1:p.Gly35Val | |
| ENST00000529083.1:c.104G>T | ENSP00000436327.1:p.Gly35Val | |
| ENST00000618712.4:c.104G>T | ENSP00000478672.1:p.Gly35Val | |
| NM_000536.3:c.104G>T | NP_000527.2:p.Gly35Val | |
| NM_001243785.1:c.104G>T | NP_001230714.1:p.Gly35Val | |
| NM_001243786.1:c.104G>T | NP_001230715.1:p.Gly35Val | |
| NM_000536.4:c.104G>T MANE Select | NP_000527.2:p.Gly35Val | |
| NM_001243785.2:c.104G>T | NP_001230714.1:p.Gly35Val | |
| NM_001243786.2:c.104G>T | NP_001230715.1:p.Gly35Val |