Linked Data
ClinVar Variation Id:
1773412
ClinVar RCV Id:
RCV002396986
dbSNP Id:
rs2152134983
MyVariant Identifiers:
chr16:g.68849570G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68815667G>A , CM000678.2:g.68815667G>A | GRCh38 |
| NC_000016.9:g.68849570G>A , CM000678.1:g.68849570G>A | GRCh37 |
| NC_000016.8:g.67407071G>A | NCBI36 |
| NG_008021.1:g.83376G>A , LRG_301:g.83376G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.1473G>A MANE Select | ENSP00000261769.4:p.Lys491= | |
| ENST00000261769.9:c.1473G>A | ENSP00000261769.4:p.Lys491= | |
| ENST00000422392.6:c.1290G>A | ENSP00000414946.2:p.Lys430= | |
| ENST00000562836.5:n.1544G>A | ||
| ENST00000566510.5:c.*139G>A | ENSP00000458139.1:n.*139G>A | |
| ENST00000566612.5:c.1473G>A | ENSP00000454782.1:p.Lys491= | |
| ENST00000611625.4:c.1536G>A | ENSP00000481063.1:p.Lys512= | |
| ENST00000612417.4:c.1473G>A | ENSP00000478360.1:p.Lys491= | |
| ENST00000621016.4:c.1473G>A | ENSP00000480664.1:p.Lys491= | |
| NM_004360.3:c.1473G>A , LRG_301t1:c.1473G>A | NP_004351.1:p.Lys491= | |
| XM_011523488.1:c.738G>A | XP_011521790.1:p.Lys246= | |
| XM_011523489.1:c.738G>A | XP_011521791.1:p.Lys246= | |
| NM_001317184.1:c.1290G>A | NP_001304113.1:p.Lys430= | |
| NM_001317185.1:c.-76G>A | NP_001304114.1:n.-76G>A | |
| NM_001317186.1:c.-347G>A | NP_001304115.1:n.-347G>A | |
| NM_004360.4:c.1473G>A | NP_004351.1:p.Lys491= | |
| NM_004360.5:c.1473G>A MANE Select | NP_004351.1:p.Lys491= | |
| NM_001317184.2:c.1290G>A | NP_001304113.1:p.Lys430= | |
| NM_001317185.2:c.-76G>A | NP_001304114.1:n.-76G>A | |
| NM_001317186.2:c.-347G>A | NP_001304115.1:n.-347G>A |