Linked Data
ClinVar Variation Id:
1049855
ClinVar RCV Id:
RCV001356486
dbSNP Id:
rs565588144
ExAC:
14:24728407 C / T
gnomAD v2:
14-24728407-C-T
gnomAD v3:
14-24259201-C-T
gnomAD v4:
14-24259201-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24259201C>T , CM000676.2:g.24259201C>T | GRCh38 |
| NC_000014.8:g.24728407C>T , CM000676.1:g.24728407C>T | GRCh37 |
| NC_000014.7:g.23798247C>T | NCBI36 |
| NG_007150.1:g.8966G>A | |
| NG_007150.2:g.8966G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1033G>A MANE Select | ENSP00000206765.6:p.Asp345Asn | |
| ENST00000206765.10:c.1033G>A | ENSP00000206765.6:p.Asp345Asn | |
| ENST00000544573.5:c.-28-813G>A | ENSP00000439446.1:n.-28-813G>A | |
| ENST00000559136.1:c.106G>A | ENSP00000453337.1:p.Asp36Asn | |
| NM_000359.2:c.1033G>A | NP_000350.1:p.Asp345Asn | |
| NM_000359.3:c.1033G>A MANE Select | NP_000350.1:p.Asp345Asn |