Linked Data
ClinVar Variation Id:
2915574
ClinVar RCV Id:
RCV003740053
dbSNP Id:
rs139683558
ExAC:
4:100543936 A / G
gnomAD v2:
4-100543936-A-G
gnomAD v3:
4-99622779-A-G
gnomAD v4:
4-99622779-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99622779A>G , CM000666.2:g.99622779A>G | GRCh38 |
| NC_000004.11:g.100543936A>G , CM000666.1:g.100543936A>G | GRCh37 |
| NC_000004.10:g.100762959A>G | NCBI36 |
| NG_011469.1:g.63697A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.2616A>G MANE Select | ENSP00000265517.5:p.Gln872= | |
| ENST00000457717.6:c.2616A>G | ENSP00000400821.1:p.Gln872= | |
| ENST00000511045.6:c.2367A>G | ENSP00000427679.2:p.Gln789= | |
| ENST00000265517.9:c.2616A>G | ENSP00000265517.5:p.Gln872= | |
| ENST00000457717.5:c.2616A>G | ENSP00000400821.1:p.Gln872= | |
| ENST00000511045.5:c.2697A>G | ENSP00000427679.1:p.Gln899= | |
| ENST00000619629.1:c.*1063A>G | ENSP00000482850.1:n.*1063A>G | |
| NM_000253.3:c.2616A>G | NP_000244.2:p.Gln872= | |
| NM_001300785.1:c.2697A>G | NP_001287714.1:p.Gln899= | |
| NM_000253.4:c.2616A>G | NP_000244.2:p.Gln872= | |
| NM_001300785.2:c.2367A>G | NP_001287714.2:p.Gln789= | |
| NM_001386140.1:c.2616A>G MANE Select | NP_001373069.1:p.Gln872= |