Linked Data
ClinVar Variation Id:
281584
dbSNP Id:
rs780919131
ExAC:
15:40763555 C / T
gnomAD v2:
15-40763555-C-T
gnomAD v3:
15-40471356-C-T
gnomAD v4:
15-40471356-C-T
MyVariant Identifiers:
chr15:g.40763555C>T (hg19)
chr15:g.40763555_40763556delinsTG (hg19)
chr15:g.40471356C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40471356C>T , CM000677.2:g.40471356C>T | GRCh38 |
| NC_000015.9:g.40763555C>T , CM000677.1:g.40763555C>T | GRCh37 |
| NC_000015.8:g.38550847C>T | NCBI36 |
| NG_017074.1:g.5396C>T , LRG_600:g.5396C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306243.7:c.143C>T MANE Select | ENSP00000307297.6:p.Ala48Val | |
| ENST00000306243.6:c.143C>T | ENSP00000307297.5:p.Ala48Val | |
| ENST00000559991.1:c.143C>T | ENSP00000453882.1:p.Ala48Val | |
| NM_130468.3:c.143C>T , LRG_600t1:c.143C>T | NP_569735.1:p.Ala48Val | |
| NM_130468.4:c.143C>T MANE Select | NP_569735.1:p.Ala48Val |