Linked Data
ClinVar Variation Id:
628074
dbSNP Id:
rs1289438420
gnomAD v2:
2-21246415-T-C
gnomAD v4:
2-21023543-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21023543T>C , CM000664.2:g.21023543T>C | GRCh38 |
| NC_000002.11:g.21246415T>C , CM000664.1:g.21246415T>C | GRCh37 |
| NC_000002.10:g.21099920T>C | NCBI36 |
| NG_011793.1:g.25531A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*1892A>G | ENSP00000501110.2:n.*1892A>G | |
| ENST00000673882.2:c.*1892A>G | ENSP00000501253.2:n.*1892A>G | |
| ENST00000673739.1:c.2300A>G | ENSP00000501110.1:n.2300A>G | |
| ENST00000673882.1:c.2300A>G | ENSP00000501253.1:n.2300A>G | |
| ENST00000233242.5:c.2586A>G MANE Select | ENSP00000233242.1:p.Val862= | |
| ENST00000616098.4:c.2586A>G | ENSP00000477990.1:p.Val862= | |
| NM_000384.2:c.2586A>G | NP_000375.2:p.Val862= | |
| XM_011532809.1:c.2586A>G | XP_011531111.1:p.Val862= | |
| NM_000384.3:c.2586A>G MANE Select | NP_000375.3:p.Val862= |