Linked Data
dbSNP Id:
rs768374343
ExAC:
17:7357833 C / G
gnomAD v2:
17-7357833-C-G
gnomAD v4:
17-7454514-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454514C>G , CM000679.2:g.7454514C>G | GRCh38 |
| NC_000017.10:g.7357833C>G , CM000679.1:g.7357833C>G | GRCh37 |
| NC_000017.9:g.7298557C>G | NCBI36 |
| NG_008026.1:g.14428C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1038C>G MANE Select | ENSP00000304290.2:p.Val346= | |
| ENST00000306071.6:c.1038C>G | ENSP00000304290.2:p.Val346= | |
| ENST00000536404.6:c.822C>G | ENSP00000439209.2:p.Val274= | |
| ENST00000570557.5:c.701C>G | ||
| ENST00000573209.1:n.1982C>G | ||
| ENST00000576360.1:c.675C>G | ENSP00000459092.1:p.Val225= | |
| NM_000747.2:c.1038C>G | NP_000738.2:p.Val346= | |
| NM_000747.3:c.1038C>G MANE Select | NP_000738.2:p.Val346= |