Linked Data
ClinVar Variation Id:
1109037
ClinVar RCV Id:
RCV001434737
dbSNP Id:
rs863224398
MyVariant Identifiers:
chr16:g.68844120A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68810217A>G , CM000678.2:g.68810217A>G | GRCh38 |
| NC_000016.9:g.68844120A>G , CM000678.1:g.68844120A>G | GRCh37 |
| NC_000016.8:g.67401621A>G | NCBI36 |
| NG_008021.1:g.77926A>G , LRG_301:g.77926A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.708A>G MANE Select | ENSP00000261769.4:p.Ser236= | |
| ENST00000261769.9:c.708A>G | ENSP00000261769.4:p.Ser236= | |
| ENST00000422392.6:c.708A>G | ENSP00000414946.2:p.Ser236= | |
| ENST00000561751.1:c.454+1369A>G | ||
| ENST00000562836.5:n.779A>G | ||
| ENST00000566510.5:c.552A>G | ENSP00000458139.1:p.Ser184= | |
| ENST00000566612.5:c.708A>G | ENSP00000454782.1:p.Ser236= | |
| ENST00000611625.4:c.708A>G | ENSP00000481063.1:p.Ser236= | |
| ENST00000612417.4:c.708A>G | ENSP00000478360.1:p.Ser236= | |
| ENST00000621016.4:c.708A>G | ENSP00000480664.1:p.Ser236= | |
| NM_004360.3:c.708A>G , LRG_301t1:c.708A>G | NP_004351.1:p.Ser236= | |
| XM_011523488.1:c.-28A>G | XP_011521790.1:n.-28A>G | |
| XM_011523489.1:c.-28A>G | XP_011521791.1:n.-28A>G | |
| NM_001317184.1:c.708A>G | NP_001304113.1:p.Ser236= | |
| NM_001317185.1:c.-908A>G | NP_001304114.1:n.-908A>G | |
| NM_001317186.1:c.-1112A>G | NP_001304115.1:n.-1112A>G | |
| NM_004360.4:c.708A>G | NP_004351.1:p.Ser236= | |
| NM_004360.5:c.708A>G MANE Select | NP_004351.1:p.Ser236= | |
| NM_001317184.2:c.708A>G | NP_001304113.1:p.Ser236= | |
| NM_001317185.2:c.-908A>G | NP_001304114.1:n.-908A>G | |
| NM_001317186.2:c.-1112A>G | NP_001304115.1:n.-1112A>G |