Linked Data
ClinVar Variation Id:
2074584
ClinVar RCV Id:
RCV002976323
dbSNP Id:
rs1395148183
gnomAD v3:
15-71811769-C-T
gnomAD v4:
15-71811769-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811769C>T , CM000677.2:g.71811769C>T | GRCh38 |
| NC_000015.9:g.72104109C>T , CM000677.1:g.72104109C>T | GRCh37 |
| NC_000015.8:g.69891163C>T | NCBI36 |
| NG_009113.2:g.6215C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.249C>T MANE Select | ENSP00000482504.1:p.Cys83= | |
| ENST00000617575.4:c.249C>T | ENSP00000482504.1:p.Cys83= | |
| ENST00000621098.1:c.249C>T | ENSP00000479962.1:p.Cys83= | |
| ENST00000621736.4:c.-16C>T | ENSP00000479254.1:n.-16C>T | |
| NM_014249.3:c.249C>T | NP_055064.1:p.Cys83= | |
| NM_016346.3:c.249C>T | NP_057430.1:p.Cys83= | |
| XM_011521146.1:c.-16C>T | XP_011519448.1:n.-16C>T | |
| NM_014249.4:c.249C>T MANE Select | NP_055064.1:p.Cys83= | |
| NM_016346.4:c.249C>T | NP_057430.1:p.Cys83= |