Linked Data
ClinVar Variation Id:
14178
ClinVar RCV Id:
RCV000015241
dbSNP Id:
rs121913593
PubMed:
PMID:8816708
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306110G>A , CM000663.2:g.161306110G>A | GRCh38 |
| NC_000001.10:g.161275900G>A , CM000663.1:g.161275900G>A | GRCh37 |
| NC_000001.9:g.159542524G>A | NCBI36 |
| NG_008055.1:g.8863C>T , LRG_256:g.8863C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000526189.3:c.562C>T | ENSP00000488104.2:p.Gln188Ter | |
| ENST00000533357.5:c.643C>T MANE Select | ENSP00000432943.1:p.Gln215Ter | |
| ENST00000672287.2:c.55C>T | ENSP00000499818.2:p.Gln19Ter | |
| ENST00000672602.2:c.643C>T | ENSP00000500814.2:p.Gln215Ter | |
| ENST00000674861.1:n.706C>T | ||
| ENST00000463290.5:c.643C>T | ENSP00000431538.1:p.Gln215Ter | |
| ENST00000476410.1:n.103C>T | ||
| ENST00000488271.1:n.81C>T | ||
| ENST00000491222.5:c.55C>T | ENSP00000431441.1:p.Gln19Ter | |
| ENST00000526189.2:c.306C>T | ||
| ENST00000533357.4:c.643C>T | ENSP00000432943.1:p.Gln215Ter | |
| NM_000530.6:c.643C>T , LRG_256t1:c.643C>T | NP_000521.2:p.Gln215Ter | |
| NM_000530.7:c.643C>T | NP_000521.2:p.Gln215Ter | |
| NM_001315491.1:c.643C>T | NP_001302420.1:p.Gln215Ter | |
| XM_017001321.2:c.673C>T | XP_016856810.1:p.Gln225Ter | |
| NM_000530.8:c.643C>T MANE Select | NP_000521.2:p.Gln215Ter | |
| NM_001315491.2:c.643C>T | NP_001302420.1:p.Gln215Ter |