Linked Data
ClinVar Variation Id:
514177
ClinVar RCV Id:
RCV001719024
dbSNP Id:
rs554124451
ExAC:
1:197071993 G / A
gnomAD v2:
1-197071993-G-A
gnomAD v3:
1-197102863-G-A
gnomAD v4:
1-197102863-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197102863G>A , CM000663.2:g.197102863G>A | GRCh38 |
| NC_000001.10:g.197071993G>A , CM000663.1:g.197071993G>A | GRCh37 |
| NC_000001.9:g.195338616G>A | NCBI36 |
| NG_015867.1:g.48832C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2108-6699C>T | ||
| ENST00000367409.9:c.6388C>T MANE Select | ENSP00000356379.4:p.His2130Tyr | |
| ENST00000680265.1:c.6388C>T | ENSP00000505384.1:p.His2130Tyr | |
| ENST00000680710.1:c.6388C>T | ENSP00000506676.1:p.His2130Tyr | |
| ENST00000294732.11:c.4066-6699C>T | ENSP00000294732.7:n.4066-6699C>T | |
| ENST00000367408.5:c.1816-6699C>T | ENSP00000356378.1:n.1816-6699C>T | |
| ENST00000367409.8:c.6388C>T | ENSP00000356379.4:p.His2130Tyr | |
| ENST00000612785.1:c.562-216C>T | ENSP00000479244.1:n.562-216C>T | |
| NM_001206846.1:c.4066-6699C>T | NP_001193775.1:n.4066-6699C>T | |
| NM_018136.4:c.6388C>T | NP_060606.3:p.His2130Tyr | |
| NM_018136.5:c.6388C>T MANE Select | NP_060606.3:p.His2130Tyr | |
| NM_001206846.2:c.4066-6699C>T | NP_001193775.1:n.4066-6699C>T |