Linked Data
ClinVar Variation Id:
2775045
ClinVar RCV Id:
RCV003585093
dbSNP Id:
rs2152143874
MyVariant Identifiers:
chr16:g.68867222A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68833319A>C , CM000678.2:g.68833319A>C | GRCh38 |
| NC_000016.9:g.68867222A>C , CM000678.1:g.68867222A>C | GRCh37 |
| NC_000016.8:g.67424723A>C | NCBI36 |
| NG_008021.1:g.101028A>C , LRG_301:g.101028A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2469A>C MANE Select | ENSP00000261769.4:p.Thr823= | |
| ENST00000261769.9:c.2469A>C | ENSP00000261769.4:p.Thr823= | |
| ENST00000422392.6:c.2286A>C | ENSP00000414946.2:p.Thr762= | |
| ENST00000562118.1:n.687A>C | ||
| ENST00000562836.5:n.2540A>C | ||
| ENST00000566510.5:c.*1135A>C | ENSP00000458139.1:n.*1135A>C | |
| ENST00000566612.5:c.*709A>C | ENSP00000454782.1:n.*709A>C | |
| ENST00000611625.4:c.2532A>C | ENSP00000481063.1:p.Thr844= | |
| ENST00000612417.4:c.1854-872A>C | ENSP00000478360.1:n.1854-872A>C | |
| ENST00000621016.4:c.1866-884A>C | ENSP00000480664.1:n.1866-884A>C | |
| NM_004360.3:c.2469A>C , LRG_301t1:c.2469A>C | NP_004351.1:p.Thr823= | |
| XM_011523488.1:c.1734A>C | XP_011521790.1:p.Thr578= | |
| XM_011523489.1:c.1734A>C | XP_011521791.1:p.Thr578= | |
| NM_001317184.1:c.2286A>C | NP_001304113.1:p.Thr762= | |
| NM_001317185.1:c.921A>C | NP_001304114.1:p.Thr307= | |
| NM_001317186.1:c.504A>C | NP_001304115.1:p.Thr168= | |
| NM_004360.4:c.2469A>C | NP_004351.1:p.Thr823= | |
| NM_004360.5:c.2469A>C MANE Select | NP_004351.1:p.Thr823= | |
| NM_001317184.2:c.2286A>C | NP_001304113.1:p.Thr762= | |
| NM_001317185.2:c.921A>C | NP_001304114.1:p.Thr307= | |
| NM_001317186.2:c.504A>C | NP_001304115.1:p.Thr168= |