Linked Data
ClinVar Variation Id:
128799
ClinVar RCV Id:
RCV002313872
dbSNP Id:
rs73471053
ExAC:
7:146829372 G / A
gnomAD v2:
7-146829372-G-A
gnomAD v3:
7-147132280-G-A
gnomAD v4:
7-147132280-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147132280G>A , CM000669.2:g.147132280G>A | GRCh38 |
| NC_000007.13:g.146829372G>A , CM000669.1:g.146829372G>A | GRCh37 |
| NC_000007.12:g.146460305G>A | NCBI36 |
| NG_007092.2:g.1020920G>A | |
| NG_007092.3:g.1021280G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361727.8:c.1119G>A MANE Select | ENSP00000354778.3:p.Thr373= | |
| ENST00000636561.1:n.1022G>A | ||
| ENST00000636870.1:n.981G>A | ||
| ENST00000637150.1:n.1048G>A | ||
| ENST00000637694.1:n.1022G>A | ||
| ENST00000637825.1:n.602G>A | ||
| ENST00000638117.1:n.1022G>A | ||
| ENST00000361727.7:c.1119G>A | ENSP00000354778.3:p.Thr373= | |
| NM_014141.5:c.1119G>A | NP_054860.1:p.Thr373= | |
| XM_017011950.2:c.1119G>A | XP_016867439.1:p.Thr373= | |
| NM_014141.6:c.1119G>A MANE Select | NP_054860.1:p.Thr373= |