Linked Data
ClinVar Variation Id:
13136
dbSNP Id:
rs121917897
ERepo:
CA122867/MONDO:0000573/124
PubMed:
PMID:11313270
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36594054T>C , CM000673.2:g.36594054T>C | GRCh38 |
| NC_000011.9:g.36615604T>C , CM000673.1:g.36615604T>C | GRCh37 |
| NC_000011.8:g.36572180T>C | NCBI36 |
| NG_007573.1:g.9183A>G , LRG_99:g.9183A>G | |
| NG_033154.1:g.4562T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527033.6:c.115A>G | ENSP00000436895.2:p.Arg39Gly | |
| ENST00000529083.2:c.115A>G | ENSP00000436327.2:p.Arg39Gly | |
| ENST00000532616.2:c.115A>G | ENSP00000432174.2:p.Arg39Gly | |
| ENST00000311485.8:c.115A>G MANE Select | ENSP00000308620.4:p.Arg39Gly | |
| ENST00000311485.7:c.115A>G | ENSP00000308620.3:p.Arg39Gly | |
| ENST00000524423.1:n.131+4048A>G | ||
| ENST00000527033.5:c.115A>G | ENSP00000436895.1:p.Arg39Gly | |
| ENST00000529083.1:c.115A>G | ENSP00000436327.1:p.Arg39Gly | |
| ENST00000618712.4:c.115A>G | ENSP00000478672.1:p.Arg39Gly | |
| NM_000536.3:c.115A>G | NP_000527.2:p.Arg39Gly | |
| NM_001243785.1:c.115A>G | NP_001230714.1:p.Arg39Gly | |
| NM_001243786.1:c.115A>G | NP_001230715.1:p.Arg39Gly | |
| NM_000536.4:c.115A>G MANE Select | NP_000527.2:p.Arg39Gly | |
| NM_001243785.2:c.115A>G | NP_001230714.1:p.Arg39Gly | |
| NM_001243786.2:c.115A>G | NP_001230715.1:p.Arg39Gly |