Linked Data
ClinVar Variation Id:
1770752
ClinVar RCV Id:
RCV002383409
dbSNP Id:
rs1208833496
gnomAD v2:
2-21224704-T-C
gnomAD v3:
2-21001832-T-C
gnomAD v4:
2-21001832-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21001832T>C , CM000664.2:g.21001832T>C | GRCh38 |
| NC_000002.11:g.21224704T>C , CM000664.1:g.21224704T>C | GRCh37 |
| NC_000002.10:g.21078209T>C | NCBI36 |
| NG_011793.1:g.47242A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.13590A>G MANE Select | ENSP00000233242.1:p.Thr4530= | |
| ENST00000616098.4:c.13588A>G | ENSP00000477990.1:n.13588A>G | |
| NM_000384.2:c.13590A>G | NP_000375.2:p.Thr4530= | |
| XM_011532809.1:c.5870-2559A>G | XP_011531111.1:n.5870-2559A>G | |
| NM_000384.3:c.13590A>G MANE Select | NP_000375.3:p.Thr4530= |