Linked Data
ClinVar Variation Id:
262003
dbSNP Id:
rs75175362
ExAC:
19:46914927 C / T
gnomAD v2:
19-46914927-C-T
gnomAD v3:
19-46411670-C-T
gnomAD v4:
19-46411670-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46411670C>T , CM000681.2:g.46411670C>T | GRCh38 |
| NC_000019.9:g.46914927C>T , CM000681.1:g.46914927C>T | GRCh37 |
| NC_000019.8:g.51606767C>T | NCBI36 |
| NG_031956.1:g.6993G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697726.1:c.1351G>A | ENSP00000513420.1:p.Asp451Asn | |
| ENST00000307522.5:c.1141G>A MANE Select | ENSP00000303158.3:p.Asp381Asn | |
| ENST00000307522.3:c.1141G>A | ENSP00000303158.3:p.Asp381Asn | |
| NM_032040.4:c.1141G>A | NP_114429.2:p.Asp381Asn | |
| NM_032040.5:c.1141G>A MANE Select | NP_114429.2:p.Asp381Asn |