Linked Data
ClinVar Variation Id:
1511534
ClinVar RCV Id:
RCV002016784
dbSNP Id:
rs368095184
ExAC:
15:72103824 C / T
gnomAD v2:
15-72103824-C-T
gnomAD v4:
15-71811484-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811484C>T , CM000677.2:g.71811484C>T | GRCh38 |
| NC_000015.9:g.72103824C>T , CM000677.1:g.72103824C>T | GRCh37 |
| NC_000015.8:g.69890878C>T | NCBI36 |
| NG_009113.2:g.5930C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.120C>T MANE Select | ENSP00000482504.1:p.Gly40= | |
| ENST00000617575.4:c.120C>T | ENSP00000482504.1:p.Gly40= | |
| ENST00000621098.1:c.120C>T | ENSP00000479962.1:p.Gly40= | |
| ENST00000621736.4:c.-145C>T | ENSP00000479254.1:n.-145C>T | |
| NM_014249.3:c.120C>T | NP_055064.1:p.Gly40= | |
| NM_016346.3:c.120C>T | NP_057430.1:p.Gly40= | |
| XM_011521146.1:c.-145C>T | XP_011519448.1:n.-145C>T | |
| NM_014249.4:c.120C>T MANE Select | NP_055064.1:p.Gly40= | |
| NM_016346.4:c.120C>T | NP_057430.1:p.Gly40= |