Linked Data
ClinVar Variation Id:
2925819
ClinVar RCV Id:
RCV003783913
dbSNP Id:
rs746622306
ExAC:
2:21233392 T / C
gnomAD v2:
2-21233392-T-C
gnomAD v4:
2-21010520-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21010520T>C , CM000664.2:g.21010520T>C | GRCh38 |
| NC_000002.11:g.21233392T>C , CM000664.1:g.21233392T>C | GRCh37 |
| NC_000002.10:g.21086897T>C | NCBI36 |
| NG_011793.1:g.38554A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.6348A>G MANE Select | ENSP00000233242.1:p.Gly2116= | |
| ENST00000616098.4:c.6348A>G | ENSP00000477990.1:p.Gly2116= | |
| NM_000384.2:c.6348A>G | NP_000375.2:p.Gly2116= | |
| XM_011532809.1:c.5869+213A>G | XP_011531111.1:n.5869+213A>G | |
| NM_000384.3:c.6348A>G MANE Select | NP_000375.3:p.Gly2116= |