Linked Data
ClinVar Variation Id:
257456
ClinVar RCV Id:
RCV000247328
dbSNP Id:
rs886038411
gnomAD v4:
15-65077110-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65077110C>T , CM000677.2:g.65077110C>T | GRCh38 |
| NC_000015.9:g.65369448C>T , CM000677.1:g.65369448C>T | GRCh37 |
| NC_000015.8:g.63156501C>T | NCBI36 |
| NG_021411.1:g.5295C>T , LRG_682:g.5295C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432196.5:c.295C>T MANE Select | ENSP00000388723.2:p.His99Tyr | |
| ENST00000432196.3:c.295C>T | ENSP00000388723.2:p.His99Tyr | |
| NM_001101362.2:c.295C>T , LRG_682t1:c.295C>T | NP_001094832.1:p.His99Tyr | |
| NM_001101362.3:c.295C>T MANE Select | NP_001094832.1:p.His99Tyr |