Linked Data
ClinVar Variation Id:
2181720
ClinVar RCV Id:
RCV002595799
dbSNP Id:
rs2095880983
gnomAD v4:
11-47335111-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47335111C>T , CM000673.2:g.47335111C>T | GRCh38 |
| NC_000011.9:g.47356662C>T , CM000673.1:g.47356662C>T | GRCh37 |
| NC_000011.8:g.47313238C>T | NCBI36 |
| NG_007667.1:g.22592G>A , LRG_386:g.22592G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.2836G>A MANE Select | ENSP00000442795.1:p.Ala946Thr | |
| ENST00000256993.8:c.2836G>A | ENSP00000256993.5:p.Ala946Thr | |
| ENST00000399249.6:c.2836G>A | ENSP00000382193.2:p.Ala946Thr | |
| ENST00000545968.5:c.2836G>A | ENSP00000442795.1:p.Ala946Thr | |
| NM_000256.3:c.2836G>A , LRG_386t1:c.2836G>A MANE Select | NP_000247.2:p.Ala946Thr | |
| XM_011520117.1:c.2818G>A | XP_011518419.1:p.Ala940Thr | |
| XM_011520118.1:c.2755G>A | XP_011518420.1:p.Ala919Thr |