Linked Data
ClinVar Variation Id:
1934053
dbSNP Id:
rs368649185
gnomAD v4:
4-185145811-C-T
MyVariant Identifiers:
chr4:g.186066965C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185145811C>T , CM000666.2:g.185145811C>T | GRCh38 |
| NC_000004.11:g.186066965C>T , CM000666.1:g.186066965C>T | GRCh37 |
| NC_000004.10:g.186303959C>T | NCBI36 |
| NG_013001.1:g.7549C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.651C>T MANE Select | ENSP00000281456.5:p.Ala217= | |
| ENST00000281456.10:c.651C>T | ENSP00000281456.5:p.Ala217= | |
| ENST00000491736.1:c.*428C>T | ENSP00000476711.1:n.*428C>T | |
| NM_001151.3:c.651C>T | NP_001142.2:p.Ala217= | |
| NM_001151.4:c.651C>T MANE Select | NP_001142.2:p.Ala217= |