Linked Data
ClinVar Variation Id:
1645301
ClinVar RCV Id:
RCV002143838
dbSNP Id:
rs2103178081
MyVariant Identifiers:
chr1:g.193172957T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193203827T>A , CM000663.2:g.193203827T>A | GRCh38 |
| NC_000001.10:g.193172957T>A , CM000663.1:g.193172957T>A | GRCh37 |
| NC_000001.9:g.191439580T>A | NCBI36 |
| NG_012691.1:g.86870T>A , LRG_507:g.86870T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.1005T>A MANE Select | ENSP00000356405.4:p.Pro335= | |
| ENST00000635846.1:c.762T>A | ENSP00000490035.1:p.Pro254= | |
| ENST00000643006.1:c.1073T>A | ENSP00000496633.1:p.Leu358Gln | |
| ENST00000648071.1:c.*981T>A | ENSP00000497513.1:n.*981T>A | |
| ENST00000649613.1:n.255T>A | ||
| ENST00000649895.1:n.1223T>A | ||
| ENST00000650197.1:c.1005T>A | ENSP00000496929.1:p.Pro335= | |
| ENST00000367435.3:c.1005T>A | ENSP00000356405.3:p.Pro335= | |
| NM_024529.4:c.1005T>A , LRG_507t1:c.1005T>A | NP_078805.3:p.Pro335= | |
| NM_024529.5:c.1005T>A MANE Select | NP_078805.3:p.Pro335= |