Linked Data
dbSNP Id:
rs281860570
ExAC:
6:31238024 C / A
gnomAD v3:
6-31270247-C-A
gnomAD v4:
6-31270247-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270247C>A , CM000668.2:g.31270247C>A | GRCh38 |
| NC_000006.11:g.31238024C>A , CM000668.1:g.31238024C>A | GRCh37 |
| NC_000006.10:g.31346003C>A | NCBI36 |
| NG_029422.2:g.6885G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.858G>T MANE Select | ENSP00000365402.5:p.Gln286His | |
| ENST00000376228.9:c.858G>T | ENSP00000365402.5:p.Gln286His | |
| ENST00000376237.8:c.*445G>T | ENSP00000365412.4:n.*445G>T | |
| ENST00000383329.7:c.858G>T | ENSP00000372819.3:p.Gln286His | |
| ENST00000415537.1:c.749G>T | ||
| ENST00000470363.5:n.176G>T | ||
| ENST00000487245.5:n.1217G>T | ||
| ENST00000495835.1:n.1047G>T | ||
| NM_002117.5:c.858G>T | NP_002108.4:p.Gln286His | |
| NM_002117.6:c.858G>T MANE Select | NP_002108.4:p.Gln286His |