Linked Data
ClinVar Variation Id:
925227
dbSNP Id:
rs864622213
gnomAD v4:
16-68738350-C-G
MyVariant Identifiers:
chr16:g.68772253C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68738350C>G , CM000678.2:g.68738350C>G | GRCh38 |
| NC_000016.9:g.68772253C>G , CM000678.1:g.68772253C>G | GRCh37 |
| NC_000016.8:g.67329754C>G | NCBI36 |
| NG_008021.1:g.6059C>G , LRG_301:g.6059C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.102C>G MANE Select | ENSP00000261769.4:p.Ala34= | |
| ENST00000261769.9:c.102C>G | ENSP00000261769.4:p.Ala34= | |
| ENST00000422392.6:c.102C>G | ENSP00000414946.2:p.Ala34= | |
| ENST00000566510.5:c.102C>G | ENSP00000458139.1:p.Ala34= | |
| ENST00000566612.5:c.102C>G | ENSP00000454782.1:p.Ala34= | |
| ENST00000611625.4:c.102C>G | ENSP00000481063.1:p.Ala34= | |
| ENST00000612417.4:c.102C>G | ENSP00000478360.1:p.Ala34= | |
| ENST00000621016.4:c.102C>G | ENSP00000480664.1:p.Ala34= | |
| NM_004360.3:c.102C>G , LRG_301t1:c.102C>G | NP_004351.1:p.Ala34= | |
| NM_001317184.1:c.102C>G | NP_001304113.1:p.Ala34= | |
| NM_001317185.1:c.-1514C>G | NP_001304114.1:n.-1514C>G | |
| NM_001317186.1:c.-1718C>G | NP_001304115.1:n.-1718C>G | |
| NM_004360.4:c.102C>G | NP_004351.1:p.Ala34= | |
| NM_004360.5:c.102C>G MANE Select | NP_004351.1:p.Ala34= | |
| NM_001317184.2:c.102C>G | NP_001304113.1:p.Ala34= | |
| NM_001317185.2:c.-1514C>G | NP_001304114.1:n.-1514C>G | |
| NM_001317186.2:c.-1718C>G | NP_001304115.1:n.-1718C>G |