Linked Data
ClinVar Variation Id:
3069357
ClinVar RCV Id:
RCV004007901
MyVariant Identifiers:
chr1:g.55527140A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55061467A>C , CM000663.2:g.55061467A>C | GRCh38 |
| NC_000001.10:g.55527140A>C , CM000663.1:g.55527140A>C | GRCh37 |
| NC_000001.9:g.55299728A>C | NCBI36 |
| NG_009061.1:g.26921A>C , LRG_275:g.26921A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*114A>C | ENSP00000501161.2:n.*114A>C | |
| ENST00000710286.1:c.2131A>C | ENSP00000518176.1:p.Arg711= | |
| ENST00000673903.1:c.1399A>C | ENSP00000501257.1:p.Arg467= | |
| ENST00000673913.1:c.624A>C | ENSP00000501161.1:n.624A>C | |
| ENST00000302118.5:c.1774A>C MANE Select | ENSP00000303208.5:p.Arg592= | |
| ENST00000490692.1:n.2320A>C | ||
| NM_174936.3:c.1774A>C , LRG_275t1:c.1774A>C | NP_777596.2:p.Arg592= | |
| NR_110451.1:n.1381A>C | ||
| XM_011541193.1:c.895A>C | XP_011539495.1:p.Arg299= | |
| NM_174936.4:c.1774A>C MANE Select | NP_777596.2:p.Arg592= | |
| NR_110451.2:n.1381A>C |