Linked Data
dbSNP Id:
rs372700082
ExAC:
6:31237875 G / A
gnomAD v2:
6-31237875-G-A
gnomAD v3:
6-31270098-G-A
gnomAD v4:
6-31270098-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270098G>A , CM000668.2:g.31270098G>A | GRCh38 |
| NC_000006.11:g.31237875G>A , CM000668.1:g.31237875G>A | GRCh37 |
| NC_000006.10:g.31345854G>A | NCBI36 |
| NG_029422.2:g.7034C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.896-13C>T MANE Select | ENSP00000365402.5:n.896-13C>T | |
| ENST00000376228.9:c.896-13C>T | ENSP00000365402.5:n.896-13C>T | |
| ENST00000376237.8:c.*483-13C>T | ENSP00000365412.4:n.*483-13C>T | |
| ENST00000383329.7:c.896-13C>T | ENSP00000372819.3:n.896-13C>T | |
| ENST00000470363.5:n.214-13C>T | ||
| ENST00000487245.5:n.1255-13C>T | ||
| NM_002117.5:c.896-13C>T | NP_002108.4:n.896-13C>T | |
| NM_002117.6:c.896-13C>T MANE Select | NP_002108.4:n.896-13C>T |