Linked Data
ClinVar Variation Id:
5716
ClinVar RCV Id:
RCV000006070
dbSNP Id:
rs137853141
gnomAD v4:
4-25662818-C-T
PubMed:
PMID:16960801
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25662818C>T , CM000666.2:g.25662818C>T | GRCh38 |
| NC_000004.11:g.25664440C>T , CM000666.1:g.25664440C>T | GRCh37 |
| NC_000004.10:g.25273538C>T | NCBI36 |
| NG_021185.1:g.12006C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382051.8:c.226C>T MANE Select | ENSP00000371483.3:p.Gln76Ter | |
| ENST00000645788.1:c.223C>T | ENSP00000494094.1:p.Gln75Ter | |
| ENST00000382051.7:c.226C>T | ENSP00000371483.3:p.Gln76Ter | |
| ENST00000503434.5:c.223C>T | ENSP00000423021.1:p.Gln75Ter | |
| ENST00000504570.5:c.223C>T | ENSP00000425501.1:p.Gln75Ter | |
| ENST00000507530.1:c.226C>T | ENSP00000424266.1:p.Gln76Ter | |
| ENST00000513204.5:c.223C>T | ENSP00000423038.1:p.Gln75Ter | |
| NM_001177998.1:c.223C>T | NP_001171469.1:p.Gln75Ter | |
| NM_001177999.1:c.223C>T | NP_001171470.1:p.Gln75Ter | |
| NM_006424.2:c.226C>T | NP_006415.2:p.Gln76Ter | |
| NM_006424.3:c.226C>T MANE Select | NP_006415.3:p.Gln76Ter | |
| NM_001177998.2:c.223C>T | NP_001171469.2:p.Gln75Ter | |
| NM_001177999.2:c.223C>T | NP_001171470.2:p.Gln75Ter |