Linked Data
ClinVar Variation Id:
5525
dbSNP Id:
rs104894655
gnomAD v3:
17-39665762-C-T
gnomAD v4:
17-39665762-C-T
PubMed:
PMID:10655062
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665762C>T , CM000679.2:g.39665762C>T | GRCh38 |
| NC_000017.10:g.37822015C>T , CM000679.1:g.37822015C>T | GRCh37 |
| NC_000017.9:g.35075541C>T | NCBI36 |
| NG_008892.1:g.5417C>T , LRG_210:g.5417C>T | |
| NG_042278.1:g.2782C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309889.3:c.157C>T MANE Select | ENSP00000312624.2:p.Gln53Ter | |
| ENST00000309889.2:c.157C>T | ENSP00000312624.2:p.Gln53Ter | |
| ENST00000578283.1:c.157C>T | ENSP00000462787.1:p.Gln53Ter | |
| NM_003673.3:c.157C>T , LRG_210t1:c.157C>T | NP_003664.1:p.Gln53Ter | |
| NM_003673.4:c.157C>T MANE Select | NP_003664.1:p.Gln53Ter |