Linked Data
ClinVar Variation Id:
2570523
ClinVar RCV Id:
RCV004333206
dbSNP Id:
rs555500917
ExAC:
14:39650477 C / T
gnomAD v2:
14-39650477-C-T
gnomAD v3:
14-39181273-C-T
gnomAD v4:
14-39181273-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.39181273C>T , CM000676.2:g.39181273C>T | GRCh38 |
| NC_000014.8:g.39650477C>T , CM000676.1:g.39650477C>T | GRCh37 |
| NC_000014.7:g.38720228C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216832.9:c.1564C>T MANE Select | ENSP00000216832.4:p.His522Tyr | |
| ENST00000216832.8:c.1564C>T | ENSP00000216832.4:p.His522Tyr | |
| ENST00000557680.1:n.470+597C>T | ||
| NM_002687.3:c.1564C>T | NP_002678.2:p.His522Tyr | |
| NM_002687.4:c.1564C>T MANE Select | NP_002678.3:p.His522Tyr |