Linked Data
ClinVar Variation Id:
527144
dbSNP Id:
rs371377334
ExAC:
15:48762948 C / T
gnomAD v2:
15-48762948-C-T
gnomAD v3:
15-48470751-C-T
gnomAD v4:
15-48470751-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48470751C>T , CM000677.2:g.48470751C>T | GRCh38 |
| NC_000015.9:g.48762948C>T , CM000677.1:g.48762948C>T | GRCh37 |
| NC_000015.8:g.46550240C>T | NCBI36 |
| NG_008805.2:g.180038G>A , LRG_778:g.180038G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4342G>A | ENSP00000453958.2:p.Asp1448Asn | |
| ENST00000674301.2:c.4342G>A | ENSP00000501333.2:p.Asp1448Asn | |
| ENST00000683268.1:n.309G>A | ||
| ENST00000684448.1:n.3016G>A | ||
| ENST00000316623.10:c.4342G>A MANE Select | ENSP00000325527.5:p.Asp1448Asn | |
| ENST00000316623.9:c.4342G>A | ENSP00000325527.5:p.Asp1448Asn | |
| ENST00000537463.6:c.*105G>A | ENSP00000440294.2:n.*105G>A | |
| NM_000138.4:c.4342G>A , LRG_778t1:c.4342G>A | NP_000129.3:p.Asp1448Asn | |
| NM_000138.5:c.4342G>A MANE Select | NP_000129.3:p.Asp1448Asn |