Linked Data
ClinVar Variation Id:
1411326
ClinVar RCV Id:
RCV001920570
dbSNP Id:
rs1383623172
gnomAD v4:
4-185143390-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185143390G>T , CM000666.2:g.185143390G>T | GRCh38 |
| NC_000004.11:g.186064544G>T , CM000666.1:g.186064544G>T | GRCh37 |
| NC_000004.10:g.186301538G>T | NCBI36 |
| NG_013001.1:g.5128G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.18G>T MANE Select | ENSP00000281456.5:p.Trp6Cys | |
| ENST00000281456.10:c.18G>T | ENSP00000281456.5:p.Trp6Cys | |
| ENST00000491736.1:c.18G>T | ENSP00000476711.1:p.Trp6Cys | |
| NM_001151.3:c.18G>T | NP_001142.2:p.Trp6Cys | |
| NM_001151.4:c.18G>T MANE Select | NP_001142.2:p.Trp6Cys |