Linked Data
ClinVar Variation Id:
1652248
ClinVar RCV Id:
RCV002156023
dbSNP Id:
rs2133689008
MyVariant Identifiers:
chr11:g.2186524G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2165294G>A , CM000673.2:g.2165294G>A | GRCh38 |
| NC_000011.9:g.2186524G>A , CM000673.1:g.2186524G>A | GRCh37 |
| NC_000011.8:g.2143100G>A | NCBI36 |
| NG_007114.1:g.901C>T | |
| NG_008128.1:g.11512C>T | |
| NG_050578.1:g.916C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.1272C>T MANE Select | ENSP00000325951.4:p.Asp424= | |
| ENST00000324155.8:c.*961C>T | ENSP00000325831.3:n.*961C>T | |
| ENST00000333684.9:c.990C>T | ENSP00000328814.6:p.Asp330= | |
| ENST00000352909.7:c.1272C>T | ENSP00000325951.3:p.Asp424= | |
| ENST00000381175.5:c.1353C>T | ENSP00000370567.1:p.Asp451= | |
| ENST00000381178.5:c.1365C>T | ENSP00000370571.1:p.Asp455= | |
| NM_000360.3:c.1272C>T | NP_000351.2:p.Asp424= | |
| NM_199292.2:c.1365C>T | NP_954986.2:p.Asp455= | |
| NM_199293.2:c.1353C>T | NP_954987.2:p.Asp451= | |
| XM_011520335.1:c.1284C>T | XP_011518637.1:p.Asp428= | |
| XM_011520335.2:c.1284C>T | XP_011518637.1:p.Asp428= | |
| NM_000360.4:c.1272C>T MANE Select | NP_000351.2:p.Asp424= | |
| NM_199292.3:c.1365C>T | NP_954986.2:p.Asp455= | |
| NM_199293.3:c.1353C>T | NP_954987.2:p.Asp451= |