Linked Data
ClinVar Variation Id:
5922
ClinVar RCV Id:
RCV000006285
dbSNP Id:
rs121908560
PubMed:
PMID:18203179
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63944694G>T , CM000679.2:g.63944694G>T | GRCh38 |
| NC_000017.10:g.62022054G>T , CM000679.1:g.62022054G>T | GRCh37 |
| NC_000017.9:g.59375786G>T | NCBI36 |
| NG_011699.1:g.33225C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000435607.3:c.3891C>A MANE Select | ENSP00000396320.1:p.Asn1297Lys | |
| ENST00000578147.5:c.3891C>A | ENSP00000463963.1:p.Asn1297Lys | |
| NM_000334.4:c.3891C>A MANE Select | NP_000325.4:p.Asn1297Lys | |
| XM_005257566.3:c.3891C>A | XP_005257623.1:p.Asn1297Lys |