Linked Data
ClinVar Variation Id:
2813236
ClinVar RCV Id:
RCV003677904
MyVariant Identifiers:
chr1:g.154956434C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154983958C>T , CM000663.2:g.154983958C>T | GRCh38 |
| NC_000001.10:g.154956434C>T , CM000663.1:g.154956434C>T | GRCh37 |
| NC_000001.9:g.153223058C>T | NCBI36 |
| NG_042310.1:g.5665C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292180.8:c.264C>T MANE Select | ENSP00000292180.3:p.Ala88= | |
| ENST00000292180.7:c.264C>T | ENSP00000292180.3:p.Ala88= | |
| ENST00000315144.14:c.-28C>T | ENSP00000317296.10:n.-28C>T | |
| ENST00000368431.7:c.-673C>T | ENSP00000357416.3:n.-673C>T | |
| ENST00000368432.5:c.-28C>T | ENSP00000357417.1:n.-28C>T | |
| ENST00000368433.5:c.264C>T | ENSP00000357418.1:p.Ala88= | |
| ENST00000487371.1:n.320C>T | ||
| ENST00000492620.1:n.60+561C>T | ||
| NM_001184891.1:c.-28C>T | NP_001171820.1:n.-28C>T | |
| NM_001184892.1:c.-673C>T | NP_001171821.1:n.-673C>T | |
| NM_025207.4:c.264C>T | NP_079483.3:p.Ala88= | |
| NM_201398.2:c.-28C>T | NP_958800.1:n.-28C>T | |
| XM_005245502.2:c.-28C>T | XP_005245559.1:n.-28C>T | |
| XM_005245503.2:c.-430+561C>T | XP_005245560.1:n.-430+561C>T | |
| XM_006711559.2:c.-28C>T | XP_006711622.1:n.-28C>T | |
| XR_241098.3:n.182C>T | ||
| NM_025207.5:c.264C>T MANE Select | NP_079483.3:p.Ala88= | |
| NM_001184891.2:c.-28C>T | NP_001171820.1:n.-28C>T | |
| NM_001184892.2:c.-673C>T | NP_001171821.1:n.-673C>T | |
| NM_201398.3:c.-28C>T | NP_958800.1:n.-28C>T |