Linked Data
ClinVar Variation Id:
808689
ClinVar RCV Id:
RCV002249604
dbSNP Id:
rs1239957664
gnomAD v2:
2-21233100-C-T
gnomAD v4:
2-21010228-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21010228C>T , CM000664.2:g.21010228C>T | GRCh38 |
| NC_000002.11:g.21233100C>T , CM000664.1:g.21233100C>T | GRCh37 |
| NC_000002.10:g.21086605C>T | NCBI36 |
| NG_011793.1:g.38846G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.6640G>A MANE Select | ENSP00000233242.1:p.Glu2214Lys | |
| ENST00000616098.4:c.6640G>A | ENSP00000477990.1:p.Glu2214Lys | |
| NM_000384.2:c.6640G>A | NP_000375.2:p.Glu2214Lys | |
| XM_011532809.1:c.5869+505G>A | XP_011531111.1:n.5869+505G>A | |
| NM_000384.3:c.6640G>A MANE Select | NP_000375.3:p.Glu2214Lys |