Linked Data
ClinVar Variation Id:
2903177
ClinVar RCV Id:
RCV003654742
dbSNP Id:
rs2101741799
MyVariant Identifiers:
chr1:g.115256447C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713826C>T , CM000663.2:g.114713826C>T | GRCh38 |
| NC_000001.10:g.115256447C>T , CM000663.1:g.115256447C>T | GRCh37 |
| NC_000001.9:g.115057970C>T | NCBI36 |
| NG_007572.1:g.8069G>A , LRG_92:g.8069G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.264G>A MANE Select | ENSP00000358548.4:p.Lys88= | |
| ENST00000369535.4:c.264G>A | ENSP00000358548.4:p.Lys88= | |
| NM_002524.4:c.264G>A | NP_002515.1:p.Lys88= | |
| NM_002524.5:c.264G>A MANE Select | NP_002515.1:p.Lys88= |