Linked Data
ClinVar Variation Id:
341044
ClinVar RCV Id:
RCV000378012
dbSNP Id:
rs886057326
gnomAD v2:
22-26997970-T-C
gnomAD v4:
22-26602006-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26602006T>C , CM000684.2:g.26602006T>C | GRCh38 |
| NC_000022.10:g.26997970T>C , CM000684.1:g.26997970T>C | GRCh37 |
| NC_000022.9:g.25327970T>C | NCBI36 |
| NG_009826.1:g.21022A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647569.1:n.260A>G | ||
| ENST00000647684.1:c.448A>G MANE Select | ENSP00000497249.1:p.Lys150Glu | |
| ENST00000215939.2:c.448A>G | ENSP00000215939.2:p.Lys150Glu | |
| NM_001887.3:c.448A>G | NP_001878.1:p.Lys150Glu | |
| XM_011529899.1:c.448A>G | XP_011528201.1:p.Lys150Glu | |
| NM_001887.4:c.448A>G MANE Select | NP_001878.1:p.Lys150Glu | |
| XM_011529899.3:c.448A>G | XP_011528201.1:p.Lys150Glu |