Linked Data
ClinVar Variation Id:
1507713
ClinVar RCV Id:
RCV002009567
dbSNP Id:
rs892109121
gnomAD v3:
15-84839811-C-T
gnomAD v4:
15-84839811-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84839811C>T , CM000677.2:g.84839811C>T | GRCh38 |
| NC_000015.9:g.85383042C>T , CM000677.1:g.85383042C>T | GRCh37 |
| NC_000015.8:g.83184046C>T | NCBI36 |
| NG_054748.1:g.28181C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258888.6:c.532C>T MANE Select | ENSP00000258888.6:p.His178Tyr | |
| ENST00000258888.5:c.1138C>T | ENSP00000258888.5:p.His380Tyr | |
| NM_020778.4:c.1138C>T | NP_065829.3:p.His380Tyr | |
| NM_020778.5:c.532C>T MANE Select | NP_065829.4:p.His178Tyr |