Linked Data
dbSNP Id:
rs2113487891
gnomAD v4:
5-179823964-A-G
MyVariant Identifiers:
chr5:g.179250964A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179823964A>G , CM000667.2:g.179823964A>G | GRCh38 |
| NC_000005.9:g.179250964A>G , CM000667.1:g.179250964A>G | GRCh37 |
| NC_000005.8:g.179183570A>G | NCBI36 |
| NG_011342.1:g.22577A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389805.9:c.408A>G MANE Select | ENSP00000374455.4:p.Val136= | |
| ENST00000360718.5:c.156A>G | ENSP00000353944.5:p.Val52= | |
| ENST00000389805.8:c.408A>G | ENSP00000374455.4:p.Val136= | |
| ENST00000422245.5:c.156A>G | ENSP00000394534.1:p.Val52= | |
| ENST00000464493.5:n.303A>G | ||
| ENST00000466342.1:n.107A>G | ||
| ENST00000481335.5:n.558A>G | ||
| ENST00000485412.1:n.400A>G | ||
| ENST00000504627.1:c.477A>G | ENSP00000425957.1:p.Val159= | |
| ENST00000508284.5:c.*130A>G | ENSP00000424195.1:n.*130A>G | |
| ENST00000510187.5:c.408A>G | ENSP00000424477.1:p.Val136= | |
| ENST00000514093.5:c.156A>G | ENSP00000427308.1:p.Val52= | |
| NM_001142298.1:c.156A>G | NP_001135770.1:p.Val52= | |
| NM_001142299.1:c.156A>G | NP_001135771.1:p.Val52= | |
| NM_003900.4:c.408A>G | NP_003891.1:p.Val136= | |
| XM_017010010.1:c.156A>G | XP_016865499.1:p.Val52= | |
| NM_003900.5:c.408A>G MANE Select | NP_003891.1:p.Val136= | |
| NM_001142298.2:c.156A>G | NP_001135770.1:p.Val52= | |
| NM_001142299.2:c.156A>G | NP_001135771.1:p.Val52= |