Linked Data
ClinVar Variation Id:
3018015
ClinVar RCV Id:
RCV003876678
dbSNP Id:
rs771292184
MyVariant Identifiers:
chr16:g.68863598G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829695G>T , CM000678.2:g.68829695G>T | GRCh38 |
| NC_000016.9:g.68863598G>T , CM000678.1:g.68863598G>T | GRCh37 |
| NC_000016.8:g.67421099G>T | NCBI36 |
| NG_008021.1:g.97404G>T , LRG_301:g.97404G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.2337G>T MANE Select | ENSP00000261769.4:p.Arg779= | |
| ENST00000261769.9:c.2337G>T | ENSP00000261769.4:p.Arg779= | |
| ENST00000422392.6:c.2154G>T | ENSP00000414946.2:p.Arg718= | |
| ENST00000562118.1:n.555G>T | ||
| ENST00000562836.5:n.2408G>T | ||
| ENST00000566510.5:c.*1003G>T | ENSP00000458139.1:n.*1003G>T | |
| ENST00000566612.5:c.*577G>T | ENSP00000454782.1:n.*577G>T | |
| ENST00000611625.4:c.2400G>T | ENSP00000481063.1:p.Arg800= | |
| ENST00000612417.4:c.1853+3141G>T | ENSP00000478360.1:n.1853+3141G>T | |
| ENST00000621016.4:c.1866-4508G>T | ENSP00000480664.1:n.1866-4508G>T | |
| NM_004360.3:c.2337G>T , LRG_301t1:c.2337G>T | NP_004351.1:p.Arg779= | |
| XM_011523488.1:c.1602G>T | XP_011521790.1:p.Arg534= | |
| XM_011523489.1:c.1602G>T | XP_011521791.1:p.Arg534= | |
| NM_001317184.1:c.2154G>T | NP_001304113.1:p.Arg718= | |
| NM_001317185.1:c.789G>T | NP_001304114.1:p.Arg263= | |
| NM_001317186.1:c.372G>T | NP_001304115.1:p.Arg124= | |
| NM_004360.4:c.2337G>T | NP_004351.1:p.Arg779= | |
| NM_004360.5:c.2337G>T MANE Select | NP_004351.1:p.Arg779= | |
| NM_001317184.2:c.2154G>T | NP_001304113.1:p.Arg718= | |
| NM_001317185.2:c.789G>T | NP_001304114.1:p.Arg263= | |
| NM_001317186.2:c.372G>T | NP_001304115.1:p.Arg124= |