Linked Data
ClinVar Variation Id:
1946498
ClinVar RCV Id:
RCV002681095
dbSNP Id:
rs150481751
ExAC:
4:186065974 T / C
gnomAD v2:
4-186065974-T-C
gnomAD v3:
4-185144820-T-C
gnomAD v4:
4-185144820-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185144820T>C , CM000666.2:g.185144820T>C | GRCh38 |
| NC_000004.11:g.186065974T>C , CM000666.1:g.186065974T>C | GRCh37 |
| NC_000004.10:g.186302968T>C | NCBI36 |
| NG_013001.1:g.6558T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.168T>C MANE Select | ENSP00000281456.5:p.Asp56= | |
| ENST00000281456.10:c.168T>C | ENSP00000281456.5:p.Asp56= | |
| ENST00000491736.1:c.168T>C | ENSP00000476711.1:p.Asp56= | |
| NM_001151.3:c.168T>C | NP_001142.2:p.Asp56= | |
| NM_001151.4:c.168T>C MANE Select | NP_001142.2:p.Asp56= |