Linked Data
ClinVar Variation Id:
1691938
dbSNP Id:
rs2103126478
MyVariant Identifiers:
chr1:g.193111178C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193142048C>A , CM000663.2:g.193142048C>A | GRCh38 |
| NC_000001.10:g.193111178C>A , CM000663.1:g.193111178C>A | GRCh37 |
| NC_000001.9:g.191377801C>A | NCBI36 |
| NG_012691.1:g.25091C>A , LRG_507:g.25091C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.711C>A MANE Select | ENSP00000356405.4:p.Ile237= | |
| ENST00000635846.1:c.711C>A | ENSP00000490035.1:p.Ile237= | |
| ENST00000643006.1:c.711C>A | ENSP00000496633.1:p.Ile237= | |
| ENST00000643784.1:c.*187C>A | ENSP00000494944.1:n.*187C>A | |
| ENST00000647662.1:n.612C>A | ||
| ENST00000648071.1:c.*687C>A | ENSP00000497513.1:n.*687C>A | |
| ENST00000649606.1:n.724C>A | ||
| ENST00000649895.1:n.929C>A | ||
| ENST00000650197.1:c.711C>A | ENSP00000496929.1:p.Ile237= | |
| ENST00000367435.3:c.711C>A | ENSP00000356405.3:p.Ile237= | |
| NM_024529.4:c.711C>A , LRG_507t1:c.711C>A | NP_078805.3:p.Ile237= | |
| XM_006711537.2:c.711C>A | XP_006711600.1:p.Ile237= | |
| XM_006711537.4:c.711C>A | XP_006711600.1:p.Ile237= | |
| NM_024529.5:c.711C>A MANE Select | NP_078805.3:p.Ile237= |