Linked Data
ClinVar Variation Id:
1587804
ClinVar RCV Id:
RCV002103558
dbSNP Id:
rs2101349453
MyVariant Identifiers:
chr1:g.119964640T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119422017T>C , CM000663.2:g.119422017T>C | GRCh38 |
| NC_000001.10:g.119964640T>C , CM000663.1:g.119964640T>C | GRCh37 |
| NC_000001.9:g.119766163T>C | NCBI36 |
| NG_013349.1:g.12087T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369416.4:c.516T>C MANE Select | ENSP00000358424.3:p.Asn172= | |
| ENST00000369416.3:c.516T>C | ENSP00000358424.3:p.Asn172= | |
| ENST00000433745.5:c.516T>C | ENSP00000388292.1:p.Asn172= | |
| ENST00000448448.2:n.460T>C | ||
| ENST00000543831.5:c.516T>C | ENSP00000445122.1:p.Asn172= | |
| NM_000198.3:c.516T>C | NP_000189.1:p.Asn172= | |
| NM_001166120.1:c.516T>C | NP_001159592.1:p.Asn172= | |
| NM_000198.4:c.516T>C MANE Select | NP_000189.1:p.Asn172= | |
| NM_001166120.2:c.516T>C | NP_001159592.1:p.Asn172= |