Linked Data
ClinVar Variation Id:
1572969
ClinVar RCV Id:
RCV002215692
dbSNP Id:
rs555860015
gnomAD v2:
15-72103827-G-C
gnomAD v4:
15-71811487-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811487G>C , CM000677.2:g.71811487G>C | GRCh38 |
| NC_000015.9:g.72103827G>C , CM000677.1:g.72103827G>C | GRCh37 |
| NC_000015.8:g.69890881G>C | NCBI36 |
| NG_009113.2:g.5933G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.123G>C MANE Select | ENSP00000482504.1:p.Val41= | |
| ENST00000617575.4:c.123G>C | ENSP00000482504.1:p.Val41= | |
| ENST00000621098.1:c.123G>C | ENSP00000479962.1:p.Val41= | |
| ENST00000621736.4:c.-142G>C | ENSP00000479254.1:n.-142G>C | |
| NM_014249.3:c.123G>C | NP_055064.1:p.Val41= | |
| NM_016346.3:c.123G>C | NP_057430.1:p.Val41= | |
| XM_011521146.1:c.-142G>C | XP_011519448.1:n.-142G>C | |
| NM_014249.4:c.123G>C MANE Select | NP_055064.1:p.Val41= | |
| NM_016346.4:c.123G>C | NP_057430.1:p.Val41= |