Linked Data
ClinVar Variation Id:
456283
ClinVar RCV Id:
RCV000547221
dbSNP Id:
rs774728053
ExAC:
11:22646810 C / T
gnomAD v2:
11-22646810-C-T
gnomAD v4:
11-22625264-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625264C>T , CM000673.2:g.22625264C>T | GRCh38 |
| NC_000011.9:g.22646810C>T , CM000673.1:g.22646810C>T | GRCh37 |
| NC_000011.8:g.22603386C>T | NCBI36 |
| NG_007425.1:g.5578G>A , LRG_527:g.5578G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.547G>A MANE Select | ENSP00000330875.3:p.Glu183Lys | |
| ENST00000327470.4:c.547G>A | ENSP00000330875.3:p.Glu183Lys | |
| NM_022725.3:c.547G>A , LRG_527t1:c.547G>A | NP_073562.1:p.Glu183Lys | |
| NM_022725.4:c.547G>A MANE Select | NP_073562.1:p.Glu183Lys |