Linked Data
ClinVar Variation Id:
793061
ClinVar RCV Id:
RCV000976215
dbSNP Id:
rs1595955887
gnomAD v4:
15-71811505-C-T
MyVariant Identifiers:
chr15:g.72103845C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811505C>T , CM000677.2:g.71811505C>T | GRCh38 |
| NC_000015.9:g.72103845C>T , CM000677.1:g.72103845C>T | GRCh37 |
| NC_000015.8:g.69890899C>T | NCBI36 |
| NG_009113.2:g.5951C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.141C>T MANE Select | ENSP00000482504.1:p.Cys47= | |
| ENST00000617575.4:c.141C>T | ENSP00000482504.1:p.Cys47= | |
| ENST00000621098.1:c.141C>T | ENSP00000479962.1:p.Cys47= | |
| ENST00000621736.4:c.-124C>T | ENSP00000479254.1:n.-124C>T | |
| NM_014249.3:c.141C>T | NP_055064.1:p.Cys47= | |
| NM_016346.3:c.141C>T | NP_057430.1:p.Cys47= | |
| XM_011521146.1:c.-124C>T | XP_011519448.1:n.-124C>T | |
| NM_014249.4:c.141C>T MANE Select | NP_055064.1:p.Cys47= | |
| NM_016346.4:c.141C>T | NP_057430.1:p.Cys47= |