Linked Data
ClinVar Variation Id:
491531
dbSNP Id:
rs1160169015
gnomAD v2:
16-68835666-A-G
gnomAD v4:
16-68801763-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68801763A>G , CM000678.2:g.68801763A>G | GRCh38 |
| NC_000016.9:g.68835666A>G , CM000678.1:g.68835666A>G | GRCh37 |
| NC_000016.8:g.67393167A>G | NCBI36 |
| NG_008021.1:g.69472A>G , LRG_301:g.69472A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.257A>G MANE Select | ENSP00000261769.4:p.Lys86Arg | |
| ENST00000261769.9:c.257A>G | ENSP00000261769.4:p.Lys86Arg | |
| ENST00000422392.6:c.257A>G | ENSP00000414946.2:p.Lys86Arg | |
| ENST00000561751.1:c.24A>G | ||
| ENST00000562836.5:n.328A>G | ||
| ENST00000564676.5:n.539A>G | ||
| ENST00000564745.1:n.252A>G | ||
| ENST00000566510.5:c.257A>G | ENSP00000458139.1:p.Lys86Arg | |
| ENST00000566612.5:c.257A>G | ENSP00000454782.1:p.Lys86Arg | |
| ENST00000611625.4:c.257A>G | ENSP00000481063.1:p.Lys86Arg | |
| ENST00000612417.4:c.257A>G | ENSP00000478360.1:p.Lys86Arg | |
| ENST00000621016.4:c.257A>G | ENSP00000480664.1:p.Lys86Arg | |
| NM_004360.3:c.257A>G , LRG_301t1:c.257A>G | NP_004351.1:p.Lys86Arg | |
| XM_011523488.1:c.-479A>G | XP_011521790.1:n.-479A>G | |
| XM_011523489.1:c.-479A>G | XP_011521791.1:n.-479A>G | |
| NM_001317184.1:c.257A>G | NP_001304113.1:p.Lys86Arg | |
| NM_001317185.1:c.-1359A>G | NP_001304114.1:n.-1359A>G | |
| NM_001317186.1:c.-1563A>G | NP_001304115.1:n.-1563A>G | |
| NM_004360.4:c.257A>G | NP_004351.1:p.Lys86Arg | |
| NM_004360.5:c.257A>G MANE Select | NP_004351.1:p.Lys86Arg | |
| NM_001317184.2:c.257A>G | NP_001304113.1:p.Lys86Arg | |
| NM_001317185.2:c.-1359A>G | NP_001304114.1:n.-1359A>G | |
| NM_001317186.2:c.-1563A>G | NP_001304115.1:n.-1563A>G |