Linked Data
ClinVar Variation Id:
2127888
ClinVar RCV Id:
RCV003036071
dbSNP Id:
rs1961223258
MyVariant Identifiers:
chr16:g.68857306A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68823403A>G , CM000678.2:g.68823403A>G | GRCh38 |
| NC_000016.9:g.68857306A>G , CM000678.1:g.68857306A>G | GRCh37 |
| NC_000016.8:g.67414807A>G | NCBI36 |
| NG_008021.1:g.91112A>G , LRG_301:g.91112A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.1941A>G MANE Select | ENSP00000261769.4:p.Gln647= | |
| ENST00000261769.9:c.1941A>G | ENSP00000261769.4:p.Gln647= | |
| ENST00000422392.6:c.1758A>G | ENSP00000414946.2:p.Gln586= | |
| ENST00000562118.1:n.159A>G | ||
| ENST00000562836.5:n.2012A>G | ||
| ENST00000566510.5:c.*607A>G | ENSP00000458139.1:n.*607A>G | |
| ENST00000566612.5:c.*181A>G | ENSP00000454782.1:n.*181A>G | |
| ENST00000611625.4:c.2004A>G | ENSP00000481063.1:p.Gln668= | |
| ENST00000612417.4:c.1830+1284A>G | ENSP00000478360.1:n.1830+1284A>G | |
| ENST00000621016.4:c.1865+1249A>G | ENSP00000480664.1:n.1865+1249A>G | |
| NM_004360.3:c.1941A>G , LRG_301t1:c.1941A>G | NP_004351.1:p.Gln647= | |
| XM_011523488.1:c.1206A>G | XP_011521790.1:p.Gln402= | |
| XM_011523489.1:c.1206A>G | XP_011521791.1:p.Gln402= | |
| NM_001317184.1:c.1758A>G | NP_001304113.1:p.Gln586= | |
| NM_001317185.1:c.393A>G | NP_001304114.1:p.Gln131= | |
| NM_001317186.1:c.-25A>G | NP_001304115.1:n.-25A>G | |
| NM_004360.4:c.1941A>G | NP_004351.1:p.Gln647= | |
| NM_004360.5:c.1941A>G MANE Select | NP_004351.1:p.Gln647= | |
| NM_001317184.2:c.1758A>G | NP_001304113.1:p.Gln586= | |
| NM_001317185.2:c.393A>G | NP_001304114.1:p.Gln131= | |
| NM_001317186.2:c.-25A>G | NP_001304115.1:n.-25A>G |