Linked Data
ClinVar Variation Id:
3221245
ClinVar RCV Id:
RCV004508098
MyVariant Identifiers:
chr3:g.142188992C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142470150C>T , CM000665.2:g.142470150C>T | GRCh38 |
| NC_000003.11:g.142188992C>T , CM000665.1:g.142188992C>T | GRCh37 |
| NC_000003.10:g.143671682C>T | NCBI36 |
| NG_008951.1:g.113677G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350721.9:c.6255G>A MANE Select | ENSP00000343741.4:p.Gln2085= | |
| ENST00000513291.2:n.1439G>A | ||
| ENST00000654170.1:n.1098G>A | ||
| ENST00000656590.1:c.5045G>A | ||
| ENST00000661310.1:c.6063G>A | ENSP00000499589.1:p.Gln2021= | |
| ENST00000665483.1:n.110G>A | ||
| ENST00000666447.1:n.90G>A | ||
| ENST00000666943.1:n.1719G>A | ||
| ENST00000350721.8:c.6255G>A | ENSP00000343741.4:p.Gln2085= | |
| NM_001184.3:c.6255G>A | NP_001175.2:p.Gln2085= | |
| XM_011512924.1:c.6261G>A | XP_011511226.1:p.Gln2087= | |
| XM_011512925.1:c.6069G>A | XP_011511227.1:p.Gln2023= | |
| XR_924147.1:n.6350G>A | ||
| XR_924148.1:n.6350G>A | ||
| XR_924149.1:n.6229G>A | ||
| NM_001354579.1:c.6063G>A | NP_001341508.1:p.Gln2021= | |
| XR_001740179.2:n.6344G>A | ||
| XR_001740180.2:n.6398G>A | ||
| XR_001740181.2:n.6277G>A | ||
| XR_001740182.1:n.6229G>A | ||
| XR_002959543.1:n.6454G>A | ||
| XR_924148.2:n.6350G>A | ||
| NM_001184.4:c.6255G>A MANE Select | NP_001175.2:p.Gln2085= | |
| NM_001354579.2:c.6063G>A | NP_001341508.1:p.Gln2021= |