Linked Data
ClinVar Variation Id:
2452018
ClinVar RCV Id:
RCV003172112
gnomAD v4:
1-218437448-T-C
MyVariant Identifiers:
chr1:g.218610790T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218437448T>C , CM000663.2:g.218437448T>C | GRCh38 |
| NC_000001.10:g.218610790T>C , CM000663.1:g.218610790T>C | GRCh37 |
| NC_000001.9:g.216677413T>C | NCBI36 |
| NG_027721.1:g.97115T>C | |
| NG_027721.2:g.97115T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.1038T>C MANE Select | ENSP00000355897.4:p.Cys346= | |
| ENST00000366929.4:c.1122T>C | ENSP00000355896.4:p.Cys374= | |
| ENST00000366930.8:c.1038T>C | ENSP00000355897.4:p.Cys346= | |
| ENST00000479322.1:n.522T>C | ||
| NM_001135599.2:c.1122T>C | NP_001129071.1:p.Cys374= | |
| NM_003238.3:c.1038T>C | NP_003229.1:p.Cys346= | |
| NM_001135599.3:c.1122T>C | NP_001129071.1:p.Cys374= | |
| NM_003238.4:c.1038T>C | NP_003229.1:p.Cys346= | |
| NR_138148.1:n.2341T>C | ||
| NR_138149.1:n.2425T>C | ||
| NM_003238.5:c.1038T>C | NP_003229.1:p.Cys346= | |
| NM_003238.6:c.1038T>C MANE Select | NP_003229.1:p.Cys346= | |
| NM_001135599.4:c.1122T>C | NP_001129071.1:p.Cys374= | |
| NR_138148.2:n.2289T>C | ||
| NR_138149.2:n.2373T>C |