Linked Data
ClinVar Variation Id:
795258
ClinVar RCV Id:
RCV000978574
dbSNP Id:
rs1578259386
MyVariant Identifiers:
chr4:g.100543930C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99622773C>A , CM000666.2:g.99622773C>A | GRCh38 |
| NC_000004.11:g.100543930C>A , CM000666.1:g.100543930C>A | GRCh37 |
| NC_000004.10:g.100762953C>A | NCBI36 |
| NG_011469.1:g.63691C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.2610C>A MANE Select | ENSP00000265517.5:p.Leu870= | |
| ENST00000457717.6:c.2610C>A | ENSP00000400821.1:p.Leu870= | |
| ENST00000511045.6:c.2361C>A | ENSP00000427679.2:p.Leu787= | |
| ENST00000265517.9:c.2610C>A | ENSP00000265517.5:p.Leu870= | |
| ENST00000457717.5:c.2610C>A | ENSP00000400821.1:p.Leu870= | |
| ENST00000511045.5:c.2691C>A | ENSP00000427679.1:p.Leu897= | |
| ENST00000619629.1:c.*1057C>A | ENSP00000482850.1:n.*1057C>A | |
| NM_000253.3:c.2610C>A | NP_000244.2:p.Leu870= | |
| NM_001300785.1:c.2691C>A | NP_001287714.1:p.Leu897= | |
| NM_000253.4:c.2610C>A | NP_000244.2:p.Leu870= | |
| NM_001300785.2:c.2361C>A | NP_001287714.2:p.Leu787= | |
| NM_001386140.1:c.2610C>A MANE Select | NP_001373069.1:p.Leu870= |