Linked Data
dbSNP Id:
rs1256071767
gnomAD v3:
10-122506867-G-A
gnomAD v4:
10-122506867-G-A
MyVariant Identifiers:
chr10:g.124266383G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506867G>A , CM000672.2:g.122506867G>A | GRCh38 |
| NC_000010.10:g.124266383G>A , CM000672.1:g.124266383G>A | GRCh37 |
| NC_000010.9:g.124256373G>A | NCBI36 |
| NG_011554.1:g.50343G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.954G>A MANE Select | ENSP00000357980.3:p.Gln318= | |
| ENST00000648167.1:c.636G>A | ENSP00000498033.1:p.Gln212= | |
| ENST00000368984.7:c.954G>A | ENSP00000357980.3:p.Gln318= | |
| ENST00000420892.1:c.177G>A | ENSP00000412676.1:p.Gln59= | |
| NM_002775.4:c.954G>A | NP_002766.1:p.Gln318= | |
| NM_002775.5:c.954G>A MANE Select | NP_002766.1:p.Gln318= |