Linked Data
ClinVar Variation Id:
66238
ClinVar RCV Id:
RCV000056590
dbSNP Id:
rs59851104
gnomAD v4:
12-52519869-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519869A>G , CM000674.2:g.52519869A>G | GRCh38 |
| NC_000012.11:g.52913653A>G , CM000674.1:g.52913653A>G | GRCh37 |
| NC_000012.10:g.51199920A>G | NCBI36 |
| NG_008297.1:g.5591T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.428T>C MANE Select | ENSP00000252242.4:p.Val143Ala | |
| ENST00000252242.8:c.428T>C | ENSP00000252242.4:p.Val143Ala | |
| ENST00000549420.1:c.98T>C | ENSP00000447209.1:p.Val33Ala | |
| ENST00000551275.1:c.323T>C | ENSP00000448041.1:p.Val108Ala | |
| ENST00000552629.5:n.526T>C | ||
| NM_000424.3:c.428T>C | NP_000415.2:p.Val143Ala | |
| NM_000424.4:c.428T>C MANE Select | NP_000415.2:p.Val143Ala |