Linked Data
dbSNP Id:
rs761535567
ExAC:
17:7357754 C / A
gnomAD v2:
17-7357754-C-A
gnomAD v4:
17-7454435-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454435C>A , CM000679.2:g.7454435C>A | GRCh38 |
| NC_000017.10:g.7357754C>A , CM000679.1:g.7357754C>A | GRCh37 |
| NC_000017.9:g.7298478C>A | NCBI36 |
| NG_008026.1:g.14349C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.959C>A MANE Select | ENSP00000304290.2:p.Thr320Asn | |
| ENST00000306071.6:c.959C>A | ENSP00000304290.2:p.Thr320Asn | |
| ENST00000536404.6:c.743C>A | ENSP00000439209.2:p.Thr248Asn | |
| ENST00000570557.5:c.622C>A | ||
| ENST00000573209.1:n.1903C>A | ||
| ENST00000576360.1:c.605-9C>A | ENSP00000459092.1:n.605-9C>A | |
| NM_000747.2:c.959C>A | NP_000738.2:p.Thr320Asn | |
| NM_000747.3:c.959C>A MANE Select | NP_000738.2:p.Thr320Asn |