Linked Data
ClinVar Variation Id:
705757
dbSNP Id:
rs1571890344
gnomAD v4:
1-161356786-G-A
MyVariant Identifiers:
chr1:g.161326576G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161356786G>A , CM000663.2:g.161356786G>A | GRCh38 |
| NC_000001.10:g.161326576G>A , CM000663.1:g.161326576G>A | GRCh37 |
| NC_000001.9:g.159593200G>A | NCBI36 |
| NG_012767.1:g.47411G>A , LRG_317:g.47411G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470743.5:c.*352G>A | ENSP00000482902.2:n.*352G>A | |
| ENST00000367975.7:c.351G>A MANE Select | ENSP00000356953.3:p.Lys117= | |
| ENST00000342751.8:c.242-5543G>A | ENSP00000356952.3:n.242-5543G>A | |
| ENST00000367975.6:c.351G>A | ENSP00000356953.2:p.Lys117= | |
| ENST00000392169.6:c.192G>A | ENSP00000376009.2:p.Lys64= | |
| ENST00000432287.6:c.249G>A | ENSP00000390558.2:p.Lys83= | |
| ENST00000470743.4:c.449G>A | ||
| ENST00000504963.5:c.*174G>A | ENSP00000423929.1:n.*174G>A | |
| ENST00000513009.5:c.140-5543G>A | ENSP00000423260.1:n.140-5543G>A | |
| NM_001035511.1:c.242-5543G>A | NP_001030588.1:n.242-5543G>A | |
| NM_001035512.1:c.249G>A | NP_001030589.1:p.Lys83= | |
| NM_001035513.1:c.192G>A | NP_001030590.1:p.Lys64= | |
| NM_001278172.1:c.140-5543G>A | NP_001265101.1:n.140-5543G>A | |
| NM_003001.3:c.351G>A , LRG_317t1:c.351G>A | NP_002992.1:p.Lys117= | |
| NR_103459.1:n.408G>A | ||
| NM_001035511.2:c.242-5543G>A | NP_001030588.1:n.242-5543G>A | |
| NM_001035512.2:c.249G>A | NP_001030589.1:p.Lys83= | |
| NM_001035513.2:c.192G>A | NP_001030590.1:p.Lys64= | |
| NM_001278172.2:c.140-5543G>A | NP_001265101.1:n.140-5543G>A | |
| NM_003001.5:c.351G>A MANE Select | NP_002992.1:p.Lys117= | |
| NR_103459.2:n.403G>A |