Linked Data
ClinVar Variation Id:
3221100
ClinVar RCV Id:
RCV004507956
MyVariant Identifiers:
chr3:g.142272075G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142553233G>A , CM000665.2:g.142553233G>A | GRCh38 |
| NC_000003.11:g.142272075G>A , CM000665.1:g.142272075G>A | GRCh37 |
| NC_000003.10:g.143754765G>A | NCBI36 |
| NG_008951.1:g.30594C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350721.9:c.2799C>T MANE Select | ENSP00000343741.4:p.Ile933= | |
| ENST00000515149.3:c.*1573C>T | ENSP00000425897.3:n.*1573C>T | |
| ENST00000653868.1:n.2828C>T | ||
| ENST00000656582.1:n.58C>T | ||
| ENST00000656590.1:c.1589C>T | ||
| ENST00000659195.1:n.5674C>T | ||
| ENST00000661310.1:c.2607C>T | ENSP00000499589.1:p.Ile869= | |
| ENST00000350721.8:c.2799C>T | ENSP00000343741.4:p.Ile933= | |
| NM_001184.3:c.2799C>T | NP_001175.2:p.Ile933= | |
| XM_011512924.1:c.2799C>T | XP_011511226.1:p.Ile933= | |
| XM_011512925.1:c.2607C>T | XP_011511227.1:p.Ile869= | |
| XM_011512926.1:c.2799C>T | XP_011511228.1:p.Ile933= | |
| XM_011512927.1:c.2799C>T | XP_011511229.1:p.Ile933= | |
| XR_924147.1:n.2888C>T | ||
| XR_924148.1:n.2888C>T | ||
| XR_924149.1:n.2888C>T | ||
| NM_001354579.1:c.2607C>T | NP_001341508.1:p.Ile869= | |
| XR_001740179.2:n.2888C>T | ||
| XR_001740180.2:n.2888C>T | ||
| XR_001740181.2:n.2888C>T | ||
| XR_001740182.1:n.2888C>T | ||
| XR_002959543.1:n.2888C>T | ||
| XR_924148.2:n.2888C>T | ||
| NM_001184.4:c.2799C>T MANE Select | NP_001175.2:p.Ile933= | |
| NM_001354579.2:c.2607C>T | NP_001341508.1:p.Ile869= |