Linked Data
ClinVar Variation Id:
1916237
ClinVar RCV Id:
RCV002594429
dbSNP Id:
rs1691322098
gnomAD v4:
2-232523119-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232523119T>C , CM000664.2:g.232523119T>C | GRCh38 |
| NC_000002.11:g.233387829T>C , CM000664.1:g.233387829T>C | GRCh37 |
| NC_000002.10:g.233096073T>C | NCBI36 |
| NG_008028.1:g.1908T>C | |
| NG_031969.1:g.7657T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617714.2:c.766T>C MANE Select | ENSP00000479745.1:p.Cys256Arg | |
| ENST00000449534.6:c.766T>C | ENSP00000473410.1:p.Cys256Arg | |
| ENST00000602410.1:n.421T>C | ||
| ENST00000617714.1:c.766T>C | ENSP00000479745.1:p.Cys256Arg | |
| NM_001195129.1:c.766T>C | NP_001182058.1:p.Cys256Arg | |
| NM_001195129.2:c.766T>C MANE Select | NP_001182058.1:p.Cys256Arg | |
| NM_001369848.1:c.766T>C | NP_001356777.1:p.Cys256Arg |