Linked Data
ClinVar Variation Id:
1929238
ClinVar RCV Id:
RCV002635248
MyVariant Identifiers:
chr16:g.81388150A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81354545A>C , CM000678.2:g.81354545A>C | GRCh38 |
| NC_000016.9:g.81388150A>C , CM000678.1:g.81388150A>C | GRCh37 |
| NC_000016.8:g.79945651A>C | NCBI36 |
| NG_009007.1:g.44580A>C , LRG_242:g.44580A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*131A>C | ENSP00000498114.1:n.*131A>C | |
| ENST00000648994.2:c.423A>C MANE Select | ENSP00000497351.1:p.Ala141= | |
| ENST00000650388.1:c.168-2240A>C | ENSP00000498081.1:n.168-2240A>C | |
| ENST00000674788.1:n.548A>C | ||
| ENST00000568107.2:c.423A>C | ENSP00000476795.1:p.Ala141= | |
| NM_022041.3:c.423A>C , LRG_242t1:c.423A>C | NP_071324.1:p.Ala141= | |
| XM_017023734.1:c.-217A>C | XP_016879223.1:n.-217A>C | |
| NM_001377486.1:c.-217A>C | NP_001364415.1:n.-217A>C | |
| NM_022041.4:c.423A>C MANE Select | NP_071324.1:p.Ala141= |