Linked Data
ClinVar Variation Id:
126974
ClinVar RCV Id:
RCV000114835
dbSNP Id:
rs121908815
gnomAD v4:
2-96265306-G-A
PubMed:
PMID:21156949
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96265306G>A , CM000664.2:g.96265306G>A | GRCh38 |
| NC_000002.11:g.96931044G>A , CM000664.1:g.96931044G>A | GRCh37 |
| NC_000002.10:g.96294771G>A | NCBI36 |
| NG_027695.1:g.5708C>T , LRG_528:g.5708C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.76C>T MANE Select | ENSP00000258439.3:p.Gln26Ter | |
| ENST00000258439.7:c.76C>T | ENSP00000258439.2:p.Gln26Ter | |
| ENST00000432959.1:c.76C>T | ENSP00000416660.1:p.Gln26Ter | |
| NM_001193304.2:c.76C>T | NP_001180233.1:p.Gln26Ter | |
| NM_017849.3:c.76C>T , LRG_528t1:c.76C>T | NP_060319.1:p.Gln26Ter | |
| NM_001193304.3:c.76C>T | NP_001180233.1:p.Gln26Ter | |
| NM_017849.4:c.76C>T MANE Select | NP_060319.1:p.Gln26Ter |