Linked Data
ClinVar Variation Id:
1792664
ClinVar RCV Id:
RCV002433133
dbSNP Id:
rs1365997556
MyVariant Identifiers:
chr1:g.115256459G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713838G>A , CM000663.2:g.114713838G>A | GRCh38 |
| NC_000001.10:g.115256459G>A , CM000663.1:g.115256459G>A | GRCh37 |
| NC_000001.9:g.115057982G>A | NCBI36 |
| NG_007572.1:g.8057C>T , LRG_92:g.8057C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.252C>T MANE Select | ENSP00000358548.4:p.Ile84= | |
| ENST00000369535.4:c.252C>T | ENSP00000358548.4:p.Ile84= | |
| NM_002524.4:c.252C>T | NP_002515.1:p.Ile84= | |
| NM_002524.5:c.252C>T MANE Select | NP_002515.1:p.Ile84= |