Linked Data
ClinVar Variation Id:
15067
ClinVar RCV Id:
RCV000016218
dbSNP Id:
rs34977235
PubMed:
PMID:1802883
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5234163T>A , CM000673.2:g.5234163T>A | GRCh38 |
| NC_000011.9:g.5255393T>A , CM000673.1:g.5255393T>A | GRCh37 |
| NC_000011.8:g.5211969T>A | NCBI36 |
| NG_000007.3:g.63453A>T | |
| NG_063112.2:g.14495A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000643122.1:c.143A>T | ENSP00000494708.1:p.Asp48Val | |
| ENST00000650601.1:c.143A>T MANE Select | ENSP00000497529.1:p.Asp48Val | |
| ENST00000292901.7:c.143A>T | ENSP00000292901.3:p.Asp48Val | |
| ENST00000380299.3:c.143A>T | ENSP00000369654.3:p.Asp48Val | |
| ENST00000417377.1:c.92+179A>T | ENSP00000414741.1:n.92+179A>T | |
| ENST00000429817.1:c.143A>T | ENSP00000393810.1:p.Asp48Val | |
| NM_000519.3:c.143A>T | NP_000510.1:p.Asp48Val | |
| NM_000519.4:c.143A>T MANE Select | NP_000510.1:p.Asp48Val |