Linked Data
ClinVar Variation Id:
311759
ClinVar RCV Id:
RCV000327395
dbSNP Id:
rs1054141
gnomAD v2:
13-36877978-T-C
gnomAD v3:
13-36303841-T-C
gnomAD v4:
13-36303841-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.36303841T>C , CM000675.2:g.36303841T>C | GRCh38 |
| NC_000013.10:g.36877978T>C , CM000675.1:g.36877978T>C | GRCh37 |
| NC_000013.9:g.35775978T>C | NCBI36 |
| NG_011559.1:g.71340A>G | |
| NG_011559.2:g.71340A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438666.7:c.*524A>G MANE Select | ENSP00000406061.2:n.*524A>G | |
| ENST00000650221.1:c.*524A>G | ENSP00000497209.1:n.*524A>G | |
| ENST00000355182.8:c.*524A>G | ENSP00000347314.4:n.*524A>G | |
| ENST00000438666.6:c.*524A>G | ENSP00000406061.2:n.*524A>G | |
| ENST00000451493.5:c.*524A>G | ENSP00000414147.1:n.*524A>G | |
| ENST00000494062.2:c.*524A>G | ENSP00000473599.1:n.*524A>G | |
| NM_001142294.1:c.*524A>G | NP_001135766.1:n.*524A>G | |
| NM_001142295.1:c.*524A>G | NP_001135767.1:n.*524A>G | |
| NM_001142296.1:c.*524A>G | NP_001135768.1:n.*524A>G | |
| NM_015087.4:c.*524A>G | NP_055902.1:n.*524A>G | |
| XM_005266313.3:c.*524A>G | XP_005266370.1:n.*524A>G | |
| XM_005266314.2:c.*524A>G | XP_005266371.1:n.*524A>G | |
| XM_005266315.2:c.*524A>G | XP_005266372.1:n.*524A>G | |
| XM_005266316.2:c.*524A>G | XP_005266373.1:n.*524A>G | |
| XM_005266317.2:c.*524A>G | XP_005266374.1:n.*524A>G | |
| XM_011535012.1:c.*524A>G | XP_011533314.1:n.*524A>G | |
| XM_005266313.5:c.*524A>G | XP_005266370.1:n.*524A>G | |
| XM_005266314.3:c.*524A>G | XP_005266371.1:n.*524A>G | |
| XM_005266315.3:c.*524A>G | XP_005266372.1:n.*524A>G | |
| XM_005266317.3:c.*524A>G | XP_005266374.1:n.*524A>G | |
| XM_011535012.2:c.*524A>G | XP_011533314.1:n.*524A>G | |
| XM_024449334.1:c.*524A>G | XP_024305102.1:n.*524A>G | |
| XR_001749523.2:n.2868A>G | ||
| NM_015087.5:c.*524A>G MANE Select | NP_055902.1:n.*524A>G | |
| NM_001142296.2:c.*524A>G | NP_001135768.1:n.*524A>G | |
| NM_001142294.2:c.*524A>G | NP_001135766.1:n.*524A>G | |
| NM_001142295.2:c.*524A>G | NP_001135767.1:n.*524A>G |