Linked Data
ClinVar Variation Id:
824959
ClinVar RCV Id:
RCV001022611
dbSNP Id:
rs748417942
MyVariant Identifiers:
chr5:g.131915093G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132579401G>T , CM000667.2:g.132579401G>T | GRCh38 |
| NC_000005.9:g.131915093G>T , CM000667.1:g.131915093G>T | GRCh37 |
| NC_000005.8:g.131942992G>T | NCBI36 |
| NG_021151.1:g.27478G>T | |
| NG_021151.2:g.27425G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.450G>T MANE Select | ENSP00000368100.4:p.Val150= | |
| ENST00000638452.2:c.153G>T | ENSP00000492349.2:p.Val51= | |
| ENST00000638504.1:n.442+3473G>T | ||
| ENST00000638568.2:c.153G>T | ENSP00000491158.2:p.Val51= | |
| ENST00000639899.1:n.610G>T | ||
| ENST00000640655.2:c.153G>T | ENSP00000491596.2:p.Val51= | |
| ENST00000651160.1:c.450G>T | ENSP00000498829.1:p.Val150= | |
| ENST00000651541.1:c.153G>T | ENSP00000498795.1:p.Val51= | |
| ENST00000651658.1:n.518G>T | ||
| ENST00000651723.1:c.*533G>T | ENSP00000498237.1:n.*533G>T | |
| ENST00000652016.1:c.450G>T | ENSP00000498267.1:p.Val150= | |
| ENST00000652485.1:c.450G>T | ENSP00000498973.1:p.Val150= | |
| ENST00000378823.7:c.450G>T | ENSP00000368100.4:p.Val150= | |
| ENST00000416135.5:c.153G>T | ENSP00000389515.1:p.Val51= | |
| ENST00000423956.5:c.450G>T | ENSP00000390971.1:p.Val150= | |
| ENST00000453394.5:c.450G>T | ENSP00000400049.1:p.Val150= | |
| ENST00000533482.5:c.*76G>T | ENSP00000431225.1:n.*76G>T | |
| NM_005732.3:c.450G>T | NP_005723.2:p.Val150= | |
| NM_005732.4:c.450G>T MANE Select | NP_005723.2:p.Val150= |