Linked Data
ClinVar Variation Id:
2713168
ClinVar RCV Id:
RCV003548288
MyVariant Identifiers:
chr4:g.126240101T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.125318946T>A , CM000666.2:g.125318946T>A | GRCh38 |
| NC_000004.11:g.126240101T>A , CM000666.1:g.126240101T>A | GRCh37 |
| NC_000004.10:g.126459551T>A | NCBI36 |
| NG_033865.1:g.7535T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394329.9:c.2535T>A MANE Select | ENSP00000377862.4:p.Thr845= | |
| ENST00000674496.2:c.-55+2969T>A | ENSP00000501473.2:n.-55+2969T>A | |
| ENST00000678072.1:n.141T>A | ||
| ENST00000394329.7:c.2535T>A | ENSP00000377862.3:p.Thr845= | |
| NM_001291285.1:c.2535T>A | NP_001278214.1:p.Thr845= | |
| NM_001291303.1:c.2535T>A | NP_001278232.1:p.Thr845= | |
| NM_024582.4:c.2535T>A | NP_078858.4:p.Thr845= | |
| XM_011532236.1:c.2535T>A | XP_011530538.1:p.Thr845= | |
| XM_011532237.1:c.-55+2969T>A | XP_011530539.1:n.-55+2969T>A | |
| XM_011532236.2:c.2535T>A | XP_011530538.1:p.Thr845= | |
| XM_011532237.2:c.-55+2969T>A | XP_011530539.1:n.-55+2969T>A | |
| NM_001291285.2:c.2535T>A | NP_001278214.1:p.Thr845= | |
| NM_001291303.3:c.2535T>A MANE Select | NP_001278232.1:p.Thr845= | |
| NM_024582.5:c.2535T>A | NP_078858.4:p.Thr845= | |
| NM_001291285.3:c.2535T>A | NP_001278214.1:p.Thr845= | |
| NM_024582.6:c.2535T>A | NP_078858.4:p.Thr845= |