Linked Data
ClinVar Variation Id:
1780667
ClinVar RCV Id:
RCV002410260
MyVariant Identifiers:
chr1:g.55527181T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55061508T>C , CM000663.2:g.55061508T>C | GRCh38 |
| NC_000001.10:g.55527181T>C , CM000663.1:g.55527181T>C | GRCh37 |
| NC_000001.9:g.55299769T>C | NCBI36 |
| NG_009061.1:g.26962T>C , LRG_275:g.26962T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*155T>C | ENSP00000501161.2:n.*155T>C | |
| ENST00000710286.1:c.2172T>C | ENSP00000518176.1:p.Gly724= | |
| ENST00000673903.1:c.1440T>C | ENSP00000501257.1:p.Gly480= | |
| ENST00000673913.1:c.665T>C | ENSP00000501161.1:n.665T>C | |
| ENST00000302118.5:c.1815T>C MANE Select | ENSP00000303208.5:p.Gly605= | |
| ENST00000490692.1:n.2361T>C | ||
| NM_174936.3:c.1815T>C , LRG_275t1:c.1815T>C | NP_777596.2:p.Gly605= | |
| NR_110451.1:n.1422T>C | ||
| XM_011541193.1:c.936T>C | XP_011539495.1:p.Gly312= | |
| NM_174936.4:c.1815T>C MANE Select | NP_777596.2:p.Gly605= | |
| NR_110451.2:n.1422T>C |