Linked Data
ClinVar Variation Id:
1192251
dbSNP Id:
rs2100266566
gnomAD v4:
1-55043875-G-A
MyVariant Identifiers:
chr1:g.55509548G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55043875G>A , CM000663.2:g.55043875G>A | GRCh38 |
| NC_000001.10:g.55509548G>A , CM000663.1:g.55509548G>A | GRCh37 |
| NC_000001.9:g.55282136G>A | NCBI36 |
| NG_009061.1:g.9329G>A , LRG_275:g.9329G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.240G>A | ENSP00000501161.2:p.Val80= | |
| ENST00000710286.1:c.597G>A | ENSP00000518176.1:p.Val199= | |
| ENST00000673726.1:c.240G>A | ENSP00000501004.1:p.Val80= | |
| ENST00000673903.1:c.-136G>A | ENSP00000501257.1:n.-136G>A | |
| ENST00000302118.5:c.240G>A MANE Select | ENSP00000303208.5:p.Val80= | |
| NM_174936.3:c.240G>A , LRG_275t1:c.240G>A | NP_777596.2:p.Val80= | |
| NR_110451.1:n.182+3472G>A | ||
| NM_174936.4:c.240G>A MANE Select | NP_777596.2:p.Val80= | |
| NR_110451.2:n.182+3472G>A |