Linked Data
ClinVar Variation Id:
1759113
ClinVar RCV Id:
RCV002391519
dbSNP Id:
rs764360150
gnomAD v3:
2-21009384-C-G
gnomAD v4:
2-21009384-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21009384C>G , CM000664.2:g.21009384C>G | GRCh38 |
| NC_000002.11:g.21232256C>G , CM000664.1:g.21232256C>G | GRCh37 |
| NC_000002.10:g.21085761C>G | NCBI36 |
| NG_011793.1:g.39690G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.7484G>C MANE Select | ENSP00000233242.1:p.Trp2495Ser | |
| ENST00000616098.4:c.7484G>C | ENSP00000477990.1:p.Trp2495Ser | |
| NM_000384.2:c.7484G>C | NP_000375.2:p.Trp2495Ser | |
| XM_011532809.1:c.5869+1349G>C | XP_011531111.1:n.5869+1349G>C | |
| NM_000384.3:c.7484G>C MANE Select | NP_000375.3:p.Trp2495Ser |