Linked Data
dbSNP Id:
rs2097503268
gnomAD v3:
10-122506861-C-T
gnomAD v4:
10-122506861-C-T
MyVariant Identifiers:
chr10:g.124266377C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506861C>T , CM000672.2:g.122506861C>T | GRCh38 |
| NC_000010.10:g.124266377C>T , CM000672.1:g.124266377C>T | GRCh37 |
| NC_000010.9:g.124256367C>T | NCBI36 |
| NG_011554.1:g.50337C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.948C>T MANE Select | ENSP00000357980.3:p.Tyr316= | |
| ENST00000648167.1:c.630C>T | ENSP00000498033.1:p.Tyr210= | |
| ENST00000368984.7:c.948C>T | ENSP00000357980.3:p.Tyr316= | |
| ENST00000420892.1:c.171C>T | ENSP00000412676.1:p.Tyr57= | |
| NM_002775.4:c.948C>T | NP_002766.1:p.Tyr316= | |
| NM_002775.5:c.948C>T MANE Select | NP_002766.1:p.Tyr316= |