Linked Data
ClinVar Variation Id:
2119215
ClinVar RCV Id:
RCV003032981
MyVariant Identifiers:
chr4:g.100543892A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99622735A>C , CM000666.2:g.99622735A>C | GRCh38 |
| NC_000004.11:g.100543892A>C , CM000666.1:g.100543892A>C | GRCh37 |
| NC_000004.10:g.100762915A>C | NCBI36 |
| NG_011469.1:g.63653A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.2572A>C MANE Select | ENSP00000265517.5:p.Arg858= | |
| ENST00000457717.6:c.2572A>C | ENSP00000400821.1:p.Arg858= | |
| ENST00000511045.6:c.2323A>C | ENSP00000427679.2:p.Arg775= | |
| ENST00000265517.9:c.2572A>C | ENSP00000265517.5:p.Arg858= | |
| ENST00000457717.5:c.2572A>C | ENSP00000400821.1:p.Arg858= | |
| ENST00000511045.5:c.2653A>C | ENSP00000427679.1:p.Arg885= | |
| ENST00000619629.1:c.*1019A>C | ENSP00000482850.1:n.*1019A>C | |
| NM_000253.3:c.2572A>C | NP_000244.2:p.Arg858= | |
| NM_001300785.1:c.2653A>C | NP_001287714.1:p.Arg885= | |
| NM_000253.4:c.2572A>C | NP_000244.2:p.Arg858= | |
| NM_001300785.2:c.2323A>C | NP_001287714.2:p.Arg775= | |
| NM_001386140.1:c.2572A>C MANE Select | NP_001373069.1:p.Arg858= |