Linked Data
ClinVar Variation Id:
2932286
ClinVar RCV Id:
RCV003795500
dbSNP Id:
rs757554311
ExAC:
2:21233475 T / C
gnomAD v2:
2-21233475-T-C
gnomAD v3:
2-21010603-T-C
gnomAD v4:
2-21010603-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21010603T>C , CM000664.2:g.21010603T>C | GRCh38 |
| NC_000002.11:g.21233475T>C , CM000664.1:g.21233475T>C | GRCh37 |
| NC_000002.10:g.21086980T>C | NCBI36 |
| NG_011793.1:g.38471A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.6265A>G MANE Select | ENSP00000233242.1:p.Ile2089Val | |
| ENST00000616098.4:c.6265A>G | ENSP00000477990.1:p.Ile2089Val | |
| NM_000384.2:c.6265A>G | NP_000375.2:p.Ile2089Val | |
| XM_011532809.1:c.5869+130A>G | XP_011531111.1:n.5869+130A>G | |
| NM_000384.3:c.6265A>G MANE Select | NP_000375.3:p.Ile2089Val |