Linked Data
ClinVar Variation Id:
1421148
ClinVar RCV Id:
RCV001923694
dbSNP Id:
rs1227274904
gnomAD v2:
2-233388892-C-T
gnomAD v3:
2-232524182-C-T
gnomAD v4:
2-232524182-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232524182C>T , CM000664.2:g.232524182C>T | GRCh38 |
| NC_000002.11:g.233388892C>T , CM000664.1:g.233388892C>T | GRCh37 |
| NC_000002.10:g.233097136C>T | NCBI36 |
| NG_008028.1:g.2971C>T | |
| NG_031969.1:g.8720C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617714.2:c.1330C>T MANE Select | ENSP00000479745.1:p.Arg444Trp | |
| ENST00000449534.6:c.1333C>T | ENSP00000473410.1:p.Arg445Trp | |
| ENST00000617714.1:c.1330C>T | ENSP00000479745.1:p.Arg444Trp | |
| NM_001195129.1:c.1330C>T | NP_001182058.1:p.Arg444Trp | |
| NM_001195129.2:c.1330C>T MANE Select | NP_001182058.1:p.Arg444Trp | |
| NM_001369848.1:c.1333C>T | NP_001356777.1:p.Arg445Trp |