Linked Data
dbSNP Id:
rs761284377
ExAC:
4:186066119 C / T
gnomAD v2:
4-186066119-C-T
gnomAD v4:
4-185144965-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185144965C>T , CM000666.2:g.185144965C>T | GRCh38 |
| NC_000004.11:g.186066119C>T , CM000666.1:g.186066119C>T | GRCh37 |
| NC_000004.10:g.186303113C>T | NCBI36 |
| NG_013001.1:g.6703C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.313C>T MANE Select | ENSP00000281456.5:p.Arg105Trp | |
| ENST00000281456.10:c.313C>T | ENSP00000281456.5:p.Arg105Trp | |
| ENST00000491736.1:c.313C>T | ENSP00000476711.1:p.Arg105Trp | |
| NM_001151.3:c.313C>T | NP_001142.2:p.Arg105Trp | |
| NM_001151.4:c.313C>T MANE Select | NP_001142.2:p.Arg105Trp |