Linked Data
dbSNP Id:
rs1225931721
gnomAD v2:
6-31238096-A-G
gnomAD v3:
6-31270319-A-G
gnomAD v4:
6-31270319-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270319A>G , CM000668.2:g.31270319A>G | GRCh38 |
| NC_000006.11:g.31238096A>G , CM000668.1:g.31238096A>G | GRCh37 |
| NC_000006.10:g.31346075A>G | NCBI36 |
| NG_029422.2:g.6813T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.786T>C MANE Select | ENSP00000365402.5:p.Asp262= | |
| ENST00000376228.9:c.786T>C | ENSP00000365402.5:p.Asp262= | |
| ENST00000376237.8:c.*373T>C | ENSP00000365412.4:n.*373T>C | |
| ENST00000383329.7:c.786T>C | ENSP00000372819.3:p.Asp262= | |
| ENST00000415537.1:c.677T>C | ||
| ENST00000470363.5:n.104T>C | ||
| ENST00000487245.5:n.1145T>C | ||
| ENST00000495835.1:n.975T>C | ||
| NM_002117.5:c.786T>C | NP_002108.4:p.Asp262= | |
| NM_002117.6:c.786T>C MANE Select | NP_002108.4:p.Asp262= |