Linked Data
ClinVar Variation Id:
807351
ClinVar RCV Id:
RCV000995469
dbSNP Id:
rs201762532
ExAC:
16:2035913 C / T
gnomAD v2:
16-2035913-C-T
gnomAD v3:
16-1985912-C-T
gnomAD v4:
16-1985912-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985912C>T , CM000678.2:g.1985912C>T | GRCh38 |
| NC_000016.9:g.2035913C>T , CM000678.1:g.2035913C>T | GRCh37 |
| NC_000016.8:g.1975914C>T | NCBI36 |
| NG_016288.1:g.6764C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.277C>T | ENSP00000455885.1:p.Gln93Ter | |
| ENST00000248114.7:c.502C>T MANE Select | ENSP00000248114.6:p.Gln168Ter | |
| ENST00000248114.6:c.502C>T | ENSP00000248114.6:p.Gln168Ter | |
| ENST00000565658.1:n.659C>T | ||
| ENST00000567719.1:c.277C>T | ENSP00000455885.1:p.Gln93Ter | |
| ENST00000569451.1:c.305C>T | ENSP00000456432.1:p.Thr102Ile | |
| NM_005262.2:c.502C>T | NP_005253.3:p.Gln168Ter | |
| NM_005262.3:c.502C>T MANE Select | NP_005253.3:p.Gln168Ter |