Linked Data
ClinVar Variation Id:
53121
ClinVar RCV Id:
RCV000057790
dbSNP Id:
rs199472739
gnomAD v4:
11-2572969-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572969G>A , CM000673.2:g.2572969G>A | GRCh38 |
| NC_000011.9:g.2594199G>A , CM000673.1:g.2594199G>A | GRCh37 |
| NC_000011.8:g.2550775G>A | NCBI36 |
| NG_008935.1:g.132979G>A , LRG_287:g.132979G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.643G>A | ENSP00000434560.2:p.Ala215Thr | |
| ENST00000646564.2:c.478-10466G>A | ENSP00000495806.2:n.478-10466G>A | |
| ENST00000155840.12:c.904G>A MANE Select | ENSP00000155840.2:p.Ala302Thr | |
| ENST00000335475.6:c.523G>A | ENSP00000334497.5:p.Ala175Thr | |
| ENST00000646564.1:c.124-10466G>A | ENSP00000495806.1:n.124-10466G>A | |
| ENST00000155840.9:c.904G>A | ENSP00000155840.2:p.Ala302Thr | |
| ENST00000335475.5:c.523G>A | ENSP00000334497.5:p.Ala175Thr | |
| NM_000218.2:c.904G>A , LRG_287t1:c.904G>A | NP_000209.2:p.Ala302Thr | |
| NM_181798.1:c.523G>A , LRG_287t2:c.523G>A | NP_861463.1:p.Ala175Thr | |
| NM_000218.3:c.904G>A MANE Select | NP_000209.2:p.Ala302Thr |