Linked Data
ClinVar Variation Id:
402881
ClinVar RCV Id:
RCV000454963
dbSNP Id:
rs79777505
ExAC:
10:135440216 G / A
gnomAD v2:
10-135440216-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133626712G>A , CM000672.2:g.133626712G>A | GRCh38 |
| NC_000010.10:g.135440216G>A , CM000672.1:g.135440216G>A | GRCh37 |
| NC_000010.9:g.135290206G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425520.2:c.31C>T MANE Select | ENSP00000401310.1:p.His11Tyr | |
| ENST00000425520.1:c.31C>T | ENSP00000401310.1:p.His11Tyr | |
| ENST00000443774.5:c.31C>T | ENSP00000408343.1:p.His11Tyr | |
| NM_001080998.1:c.31C>T | NP_001074467.1:p.His11Tyr | |
| XM_011539819.1:c.31C>T | XP_011538121.1:p.His11Tyr | |
| XM_011539820.1:c.31C>T | XP_011538122.1:p.His11Tyr | |
| XM_011539821.1:c.31C>T | XP_011538123.1:p.His11Tyr | |
| NM_001080998.2:c.31C>T MANE Select | NP_001074467.1:p.His11Tyr |