Linked Data
ClinVar Variation Id:
5529
dbSNP Id:
rs104894492
ExAC:
15:72103930 C / T
gnomAD v2:
15-72103930-C-T
gnomAD v3:
15-71811590-C-T
gnomAD v4:
15-71811590-C-T
MyVariant Identifiers:
chr15:g.72103930C>T (hg19)
chr15:g.72103930_72103931delinsTG (hg19)
chr15:g.71811590C>T (hg38)
PubMed:
PMID:10655056
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811590C>T , CM000677.2:g.71811590C>T | GRCh38 |
| NC_000015.9:g.72103930C>T , CM000677.1:g.72103930C>T | GRCh37 |
| NC_000015.8:g.69890984C>T | NCBI36 |
| NG_009113.2:g.6036C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.226C>T MANE Select | ENSP00000482504.1:p.Arg76Trp | |
| ENST00000617575.4:c.226C>T | ENSP00000482504.1:p.Arg76Trp | |
| ENST00000621098.1:c.226C>T | ENSP00000479962.1:p.Arg76Trp | |
| ENST00000621736.4:c.-39C>T | ENSP00000479254.1:n.-39C>T | |
| NM_014249.3:c.226C>T | NP_055064.1:p.Arg76Trp | |
| NM_016346.3:c.226C>T | NP_057430.1:p.Arg76Trp | |
| XM_011521146.1:c.-39C>T | XP_011519448.1:n.-39C>T | |
| NM_014249.4:c.226C>T MANE Select | NP_055064.1:p.Arg76Trp | |
| NM_016346.4:c.226C>T | NP_057430.1:p.Arg76Trp |