Linked Data
ClinVar Variation Id:
923842
ClinVar RCV Id:
RCV001184859
dbSNP Id:
rs61747632
MyVariant Identifiers:
chr16:g.68846049G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68812146G>C , CM000678.2:g.68812146G>C | GRCh38 |
| NC_000016.9:g.68846049G>C , CM000678.1:g.68846049G>C | GRCh37 |
| NC_000016.8:g.67403550G>C | NCBI36 |
| NG_008021.1:g.79855G>C , LRG_301:g.79855G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.1020G>C MANE Select | ENSP00000261769.4:p.Thr340= | |
| ENST00000261769.9:c.1020G>C | ENSP00000261769.4:p.Thr340= | |
| ENST00000422392.6:c.1020G>C | ENSP00000414946.2:p.Thr340= | |
| ENST00000561751.1:c.642G>C | ||
| ENST00000562836.5:n.1091G>C | ||
| ENST00000565810.1:n.64G>C | ||
| ENST00000566510.5:c.864G>C | ENSP00000458139.1:p.Thr288= | |
| ENST00000566612.5:c.1020G>C | ENSP00000454782.1:p.Thr340= | |
| ENST00000611625.4:c.1020G>C | ENSP00000481063.1:p.Thr340= | |
| ENST00000612417.4:c.1020G>C | ENSP00000478360.1:p.Thr340= | |
| ENST00000621016.4:c.1020G>C | ENSP00000480664.1:p.Thr340= | |
| NM_004360.3:c.1020G>C , LRG_301t1:c.1020G>C | NP_004351.1:p.Thr340= | |
| XM_011523488.1:c.285G>C | XP_011521790.1:p.Thr95= | |
| XM_011523489.1:c.285G>C | XP_011521791.1:p.Thr95= | |
| NM_001317184.1:c.1020G>C | NP_001304113.1:p.Thr340= | |
| NM_001317185.1:c.-596G>C | NP_001304114.1:n.-596G>C | |
| NM_001317186.1:c.-800G>C | NP_001304115.1:n.-800G>C | |
| NM_004360.4:c.1020G>C | NP_004351.1:p.Thr340= | |
| NM_004360.5:c.1020G>C MANE Select | NP_004351.1:p.Thr340= | |
| NM_001317184.2:c.1020G>C | NP_001304113.1:p.Thr340= | |
| NM_001317185.2:c.-596G>C | NP_001304114.1:n.-596G>C | |
| NM_001317186.2:c.-800G>C | NP_001304115.1:n.-800G>C |