Linked Data
ClinVar Variation Id:
188816
dbSNP Id:
rs139598219
gnomAD v4:
19-35850407-C-A
PubMed:
PMID:21672106
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35850407C>A , CM000681.2:g.35850407C>A | GRCh38 |
| NC_000019.9:g.36341309C>A , CM000681.1:g.36341309C>A | GRCh37 |
| NC_000019.8:g.41033149C>A | NCBI36 |
| NG_013356.2:g.23881G>T , LRG_693:g.23881G>T | |
| NG_051206.1:g.3773C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.565G>T MANE Select | ENSP00000368190.4:p.Glu189Ter | |
| ENST00000353632.6:c.565G>T | ENSP00000343634.5:p.Glu189Ter | |
| ENST00000378910.9:c.565G>T | ENSP00000368190.4:p.Glu189Ter | |
| NM_004646.3:c.565G>T , LRG_693t1:c.565G>T | NP_004637.1:p.Glu189Ter | |
| NM_004646.4:c.565G>T MANE Select | NP_004637.1:p.Glu189Ter |