Linked Data
ClinVar Variation Id:
227135
ClinVar RCV Id:
RCV000218316
RCV000721121
RCV000844249
RCV001267478
RCV001335431
RCV002470820
RCV003977608
dbSNP Id:
rs138480801
ExAC:
21:45919761 C / T
gnomAD v2:
21-45919761-C-T
gnomAD v3:
21-44499878-C-T
gnomAD v4:
21-44499878-C-T
PubMed:
PMID:25855803
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44499878C>T , CM000683.2:g.44499878C>T | GRCh38 |
| NC_000021.8:g.45919761C>T , CM000683.1:g.45919761C>T | GRCh37 |
| NC_000021.7:g.44744189C>T | NCBI36 |
| NG_033806.1:g.216701G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323084.9:c.1915G>A MANE Select | ENSP00000321987.4:p.Asp639Asn | |
| ENST00000642437.1:c.*1860G>A | ENSP00000496535.1:n.*1860G>A | |
| ENST00000323084.8:c.1915G>A | ENSP00000321987.4:p.Asp639Asn | |
| ENST00000613245.4:c.1474G>A | ENSP00000478010.1:p.Asp492Asn | |
| ENST00000614657.4:c.1711G>A | ENSP00000482422.1:p.Asp571Asn | |
| NM_001272037.1:c.1711G>A | NP_001258966.1:p.Asp571Asn | |
| NM_144991.2:c.1915G>A | NP_659428.2:p.Asp639Asn | |
| NM_144991.3:c.1915G>A MANE Select | NP_659428.2:p.Asp639Asn | |
| NM_001272037.2:c.1711G>A | NP_001258966.1:p.Asp571Asn |