Linked Data
ClinVar Variation Id:
1448810
ClinVar RCV Id:
RCV002002335
dbSNP Id:
rs113677828
gnomAD v2:
22-24108316-A-G
gnomAD v3:
22-23766129-A-G
gnomAD v4:
22-23766129-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23766129A>G , CM000684.2:g.23766129A>G | GRCh38 |
| NC_000022.10:g.24108316A>G , CM000684.1:g.24108316A>G | GRCh37 |
| NC_000022.9:g.22438316A>G | NCBI36 |
| NG_034223.1:g.6844T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484558.3:c.408T>C MANE Select | ENSP00000418428.3:p.His136= | |
| ENST00000401675.7:c.429T>C | ENSP00000384973.3:p.His143= | |
| ENST00000484558.2:c.408T>C | ENSP00000418428.2:p.His136= | |
| ENST00000517886.1:c.*55T>C | ENSP00000429976.1:n.*55T>C | |
| ENST00000520222.1:c.*20T>C | ENSP00000430042.1:n.*20T>C | |
| ENST00000523865.1:n.336T>C | ||
| NM_001301339.1:c.429T>C | NP_001288268.1:p.His143= | |
| NM_213720.2:c.408T>C | NP_998885.1:p.His136= | |
| NR_125755.1:n.453T>C | ||
| NR_125756.1:n.286T>C | ||
| NM_001301339.2:c.429T>C | NP_001288268.1:p.His143= | |
| NM_213720.3:c.408T>C MANE Select | NP_998885.1:p.His136= | |
| NR_125755.2:n.453T>C | ||
| NR_125756.2:n.286T>C |