Linked Data
dbSNP Id:
rs61759946
ExAC:
6:31237159 C / A
gnomAD v2:
6-31237159-C-A
gnomAD v3:
6-31269382-C-A
gnomAD v4:
6-31269382-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269382C>A , CM000668.2:g.31269382C>A | GRCh38 |
| NC_000006.11:g.31237159C>A , CM000668.1:g.31237159C>A | GRCh37 |
| NC_000006.10:g.31345138C>A | NCBI36 |
| NG_029422.2:g.7750G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1052G>T MANE Select | ENSP00000365402.5:p.Ser351Ile | |
| ENST00000376228.9:c.1052G>T | ENSP00000365402.5:p.Ser351Ile | |
| ENST00000376237.8:c.*639G>T | ENSP00000365412.4:n.*639G>T | |
| ENST00000383329.7:c.1070G>T | ENSP00000372819.3:p.Ser357Ile | |
| ENST00000466892.5:n.285G>T | ||
| ENST00000470363.5:n.810G>T | ||
| ENST00000487245.5:n.1411G>T | ||
| NM_002117.5:c.1052G>T | NP_002108.4:p.Ser351Ile | |
| NM_002117.6:c.1052G>T MANE Select | NP_002108.4:p.Ser351Ile |