Linked Data
ClinVar Variation Id:
1449718
ClinVar RCV Id:
RCV001989767
dbSNP Id:
rs1159171537
gnomAD v2:
7-146829460-A-G
gnomAD v3:
7-147132368-A-G
gnomAD v4:
7-147132368-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147132368A>G , CM000669.2:g.147132368A>G | GRCh38 |
| NC_000007.13:g.146829460A>G , CM000669.1:g.146829460A>G | GRCh37 |
| NC_000007.12:g.146460393A>G | NCBI36 |
| NG_007092.2:g.1021008A>G | |
| NG_007092.3:g.1021368A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1207A>G MANE Select | ENSP00000354778.3:p.Thr403Ala | |
| ENST00000636561.1:n.1110A>G | ||
| ENST00000636870.1:n.1069A>G | ||
| ENST00000637150.1:n.1136A>G | ||
| ENST00000637694.1:n.1110A>G | ||
| ENST00000637825.1:n.690A>G | ||
| ENST00000638117.1:n.1110A>G | ||
| ENST00000361727.7:c.1207A>G | ENSP00000354778.3:p.Thr403Ala | |
| NM_014141.5:c.1207A>G | NP_054860.1:p.Thr403Ala | |
| XM_017011950.2:c.1207A>G | XP_016867439.1:p.Thr403Ala | |
| NM_014141.6:c.1207A>G MANE Select | NP_054860.1:p.Thr403Ala |