Linked Data
ClinVar Variation Id:
15884
ClinVar RCV Id:
RCV000017230
dbSNP Id:
rs34273731
gnomAD v4:
16-177133-G-T
PubMed:
PMID:15008266
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177133G>T , CM000678.2:g.177133G>T | GRCh38 |
| NC_000016.9:g.227132G>T , CM000678.1:g.227132G>T | GRCh37 |
| NC_000016.8:g.167132G>T | NCBI36 |
| NG_000006.1:g.37996G>T | |
| NG_059186.1:g.5483G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.300G>T MANE Select | ENSP00000322421.5:p.Lys100Asn | |
| ENST00000397797.1:c.204G>T | ENSP00000380899.1:p.Lys68Asn | |
| ENST00000472694.1:n.436G>T | ||
| ENST00000487791.1:n.269G>T | ||
| NM_000558.4:c.300G>T | NP_000549.1:p.Lys100Asn | |
| NM_000558.5:c.300G>T MANE Select | NP_000549.1:p.Lys100Asn |