Linked Data
ClinVar Variation Id:
2819466
ClinVar RCV Id:
RCV003706313
gnomAD v4:
16-88804562-C-A
MyVariant Identifiers:
chr16:g.88870970C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88804562C>A , CM000678.2:g.88804562C>A | GRCh38 |
| NC_000016.9:g.88870970C>A , CM000678.1:g.88870970C>A | GRCh37 |
| NC_000016.8:g.87398471C>A | NCBI36 |
| NG_028266.1:g.5785C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301019.9:c.246C>A MANE Select | ENSP00000301019.4:p.Thr82= | |
| ENST00000301019.8:c.246C>A | ENSP00000301019.4:p.Thr82= | |
| NM_030928.3:c.246C>A | NP_112190.2:p.Thr82= | |
| NM_030928.4:c.246C>A MANE Select | NP_112190.2:p.Thr82= |