Linked Data
ClinVar Variation Id:
1780028
ClinVar RCV Id:
RCV002404119
MyVariant Identifiers:
chr1:g.55527148C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55061475C>T , CM000663.2:g.55061475C>T | GRCh38 |
| NC_000001.10:g.55527148C>T , CM000663.1:g.55527148C>T | GRCh37 |
| NC_000001.9:g.55299736C>T | NCBI36 |
| NG_009061.1:g.26929C>T , LRG_275:g.26929C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*122C>T | ENSP00000501161.2:n.*122C>T | |
| ENST00000710286.1:c.2139C>T | ENSP00000518176.1:p.Ala713= | |
| ENST00000673903.1:c.1407C>T | ENSP00000501257.1:p.Ala469= | |
| ENST00000673913.1:c.632C>T | ENSP00000501161.1:n.632C>T | |
| ENST00000302118.5:c.1782C>T MANE Select | ENSP00000303208.5:p.Ala594= | |
| ENST00000490692.1:n.2328C>T | ||
| NM_174936.3:c.1782C>T , LRG_275t1:c.1782C>T | NP_777596.2:p.Ala594= | |
| NR_110451.1:n.1389C>T | ||
| XM_011541193.1:c.903C>T | XP_011539495.1:p.Ala301= | |
| NM_174936.4:c.1782C>T MANE Select | NP_777596.2:p.Ala594= | |
| NR_110451.2:n.1389C>T |