Linked Data
ClinVar Variation Id:
1422476
ClinVar RCV Id:
RCV001926152
dbSNP Id:
rs571674814
ExAC:
11:22646470 C / A
gnomAD v2:
11-22646470-C-A
gnomAD v3:
11-22624924-C-A
gnomAD v4:
11-22624924-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22624924C>A , CM000673.2:g.22624924C>A | GRCh38 |
| NC_000011.9:g.22646470C>A , CM000673.1:g.22646470C>A | GRCh37 |
| NC_000011.8:g.22603046C>A | NCBI36 |
| NG_007425.1:g.5918G>T , LRG_527:g.5918G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.887G>T MANE Select | ENSP00000330875.3:p.Gly296Val | |
| ENST00000327470.4:c.887G>T | ENSP00000330875.3:p.Gly296Val | |
| NM_022725.3:c.887G>T , LRG_527t1:c.887G>T | NP_073562.1:p.Gly296Val | |
| NM_022725.4:c.887G>T MANE Select | NP_073562.1:p.Gly296Val |