Linked Data
ClinVar Variation Id:
8705
ClinVar RCV Id:
RCV000009242
dbSNP Id:
rs121918322
PubMed:
PMID:19589401
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.21681060G>A , CM000675.2:g.21681060G>A | GRCh38 |
| NC_000013.10:g.22255199G>A , CM000675.1:g.22255199G>A | GRCh37 |
| NC_000013.9:g.21153199G>A | NCBI36 |
| NG_016272.1:g.14985G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382353.6:c.296G>A MANE Select | ENSP00000371790.5:p.Ser99Asn | |
| ENST00000382353.5:c.296G>A | ENSP00000371790.5:p.Ser99Asn | |
| ENST00000461657.1:n.230G>A | ||
| NM_002010.2:c.296G>A | NP_002001.1:p.Ser99Asn | |
| XM_011534996.1:c.146G>A | XP_011533298.1:p.Ser49Asn | |
| XM_011534996.2:c.146G>A | XP_011533298.1:p.Ser49Asn | |
| NM_002010.3:c.296G>A MANE Select | NP_002001.1:p.Ser99Asn |