Linked Data
ClinVar Variation Id:
3224963
ClinVar RCV Id:
RCV004521653
MyVariant Identifiers:
chr5:g.131939686T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132603994T>A , CM000667.2:g.132603994T>A | GRCh38 |
| NC_000005.9:g.131939686T>A , CM000667.1:g.131939686T>A | GRCh37 |
| NC_000005.8:g.131967585T>A | NCBI36 |
| NG_021151.1:g.52071T>A | |
| NG_021151.2:g.52018T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.2472T>A MANE Select | ENSP00000368100.4:p.Thr824= | |
| ENST00000638452.2:c.2175T>A | ENSP00000492349.2:p.Thr725= | |
| ENST00000638504.1:n.2080T>A | ||
| ENST00000638568.2:c.2175T>A | ENSP00000491158.2:p.Thr725= | |
| ENST00000639899.1:n.2991T>A | ||
| ENST00000640655.2:c.2175T>A | ENSP00000491596.2:p.Thr725= | |
| ENST00000651160.1:c.*616T>A | ENSP00000498829.1:n.*616T>A | |
| ENST00000651658.1:n.3015T>A | ||
| ENST00000651723.1:c.*2555T>A | ENSP00000498237.1:n.*2555T>A | |
| ENST00000652016.1:c.*689T>A | ENSP00000498267.1:n.*689T>A | |
| ENST00000652485.1:c.2505T>A | ENSP00000498973.1:p.Thr835= | |
| ENST00000378823.7:c.2472T>A | ENSP00000368100.4:p.Thr824= | |
| ENST00000423956.5:c.*658T>A | ENSP00000390971.1:n.*658T>A | |
| ENST00000533482.5:c.*2098T>A | ENSP00000431225.1:n.*2098T>A | |
| NM_005732.3:c.2472T>A | NP_005723.2:p.Thr824= | |
| NM_005732.4:c.2472T>A MANE Select | NP_005723.2:p.Thr824= |