Linked Data
ClinVar Variation Id:
30917
ClinVar RCV Id:
RCV000023905
dbSNP Id:
rs387907051
gnomAD v4:
11-124923807-C-T
PubMed:
PMID:21419380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124923807C>T , CM000673.2:g.124923807C>T | GRCh38 |
| NC_000011.9:g.124793703C>T , CM000673.1:g.124793703C>T | GRCh37 |
| NC_000011.8:g.124298913C>T | NCBI36 |
| NG_029603.1:g.17606G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703807.1:c.631G>A | ENSP00000515485.1:p.Asp211Asn | |
| ENST00000298251.5:c.631G>A MANE Select | ENSP00000298251.4:p.Asp211Asn | |
| ENST00000298251.4:c.631G>A | ENSP00000298251.4:p.Asp211Asn | |
| ENST00000526273.1:n.403G>A | ||
| NM_152722.4:c.631G>A | NP_689935.2:p.Asp211Asn | |
| XM_005271449.1:c.631G>A | XP_005271506.1:p.Asp211Asn | |
| XM_006718786.1:c.631G>A | XP_006718849.1:p.Asp211Asn | |
| XM_011542669.1:c.631G>A | XP_011540971.1:p.Asp211Asn | |
| XM_005271449.2:c.631G>A | XP_005271506.1:p.Asp211Asn | |
| XM_017017361.1:c.631G>A | XP_016872850.1:p.Asp211Asn | |
| XR_001748429.2:n.325-19593C>T | ||
| NM_152722.5:c.631G>A MANE Select | NP_689935.2:p.Asp211Asn |