Linked Data
ClinVar Variation Id:
578264
ClinVar RCV Id:
RCV000701221
dbSNP Id:
rs775070102
ExAC:
17:7357810 A / G
gnomAD v2:
17-7357810-A-G
gnomAD v3:
17-7454491-A-G
gnomAD v4:
17-7454491-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454491A>G , CM000679.2:g.7454491A>G | GRCh38 |
| NC_000017.10:g.7357810A>G , CM000679.1:g.7357810A>G | GRCh37 |
| NC_000017.9:g.7298534A>G | NCBI36 |
| NG_008026.1:g.14405A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1015A>G MANE Select | ENSP00000304290.2:p.Thr339Ala | |
| ENST00000306071.6:c.1015A>G | ENSP00000304290.2:p.Thr339Ala | |
| ENST00000536404.6:c.799A>G | ENSP00000439209.2:p.Thr267Ala | |
| ENST00000570557.5:c.678A>G | ||
| ENST00000573209.1:n.1959A>G | ||
| ENST00000576360.1:c.652A>G | ENSP00000459092.1:p.Thr218Ala | |
| NM_000747.2:c.1015A>G | NP_000738.2:p.Thr339Ala | |
| NM_000747.3:c.1015A>G MANE Select | NP_000738.2:p.Thr339Ala |