Linked Data
ClinVar Variation Id:
1298939
ClinVar RCV Id:
RCV001727269
dbSNP Id:
rs527236101
gnomAD v4:
3-129528913-C-T
MyVariant Identifiers:
chr3:g.129247756C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129528913C>T , CM000665.2:g.129528913C>T | GRCh38 |
| NC_000003.11:g.129247756C>T , CM000665.1:g.129247756C>T | GRCh37 |
| NC_000003.10:g.130730446C>T | NCBI36 |
| NG_009115.1:g.5275C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296271.4:c.180C>T MANE Select | ENSP00000296271.3:p.Tyr60= | |
| ENST00000296271.3:c.180C>T | ENSP00000296271.3:p.Tyr60= | |
| NM_000539.3:c.180C>T MANE Select | NP_000530.1:p.Tyr60= |