Linked Data
ClinVar Variation Id:
854237
ClinVar RCV Id:
RCV001059241
dbSNP Id:
rs780747014
ExAC:
11:22646480 T / C
gnomAD v2:
11-22646480-T-C
gnomAD v3:
11-22624934-T-C
gnomAD v4:
11-22624934-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22624934T>C , CM000673.2:g.22624934T>C | GRCh38 |
| NC_000011.9:g.22646480T>C , CM000673.1:g.22646480T>C | GRCh37 |
| NC_000011.8:g.22603056T>C | NCBI36 |
| NG_007425.1:g.5908A>G , LRG_527:g.5908A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.877A>G MANE Select | ENSP00000330875.3:p.Ile293Val | |
| ENST00000327470.4:c.877A>G | ENSP00000330875.3:p.Ile293Val | |
| NM_022725.3:c.877A>G , LRG_527t1:c.877A>G | NP_073562.1:p.Ile293Val | |
| NM_022725.4:c.877A>G MANE Select | NP_073562.1:p.Ile293Val |