Linked Data
ClinVar Variation Id:
2453515
ClinVar RCV Id:
RCV003182970
gnomAD v4:
3-142470141-T-C
MyVariant Identifiers:
chr3:g.142188983T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142470141T>C , CM000665.2:g.142470141T>C | GRCh38 |
| NC_000003.11:g.142188983T>C , CM000665.1:g.142188983T>C | GRCh37 |
| NC_000003.10:g.143671673T>C | NCBI36 |
| NG_008951.1:g.113686A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350721.9:c.6264A>G MANE Select | ENSP00000343741.4:p.Pro2088= | |
| ENST00000513291.2:n.1448A>G | ||
| ENST00000654170.1:n.1107A>G | ||
| ENST00000656590.1:c.5054A>G | ||
| ENST00000661310.1:c.6072A>G | ENSP00000499589.1:p.Pro2024= | |
| ENST00000665483.1:n.119A>G | ||
| ENST00000666447.1:n.99A>G | ||
| ENST00000666943.1:n.1728A>G | ||
| ENST00000350721.8:c.6264A>G | ENSP00000343741.4:p.Pro2088= | |
| NM_001184.3:c.6264A>G | NP_001175.2:p.Pro2088= | |
| XM_011512924.1:c.6270A>G | XP_011511226.1:p.Pro2090= | |
| XM_011512925.1:c.6078A>G | XP_011511227.1:p.Pro2026= | |
| XR_924147.1:n.6359A>G | ||
| XR_924148.1:n.6359A>G | ||
| XR_924149.1:n.6238A>G | ||
| NM_001354579.1:c.6072A>G | NP_001341508.1:p.Pro2024= | |
| XR_001740179.2:n.6353A>G | ||
| XR_001740180.2:n.6407A>G | ||
| XR_001740181.2:n.6286A>G | ||
| XR_001740182.1:n.6238A>G | ||
| XR_002959543.1:n.6463A>G | ||
| XR_924148.2:n.6359A>G | ||
| NM_001184.4:c.6264A>G MANE Select | NP_001175.2:p.Pro2088= | |
| NM_001354579.2:c.6072A>G | NP_001341508.1:p.Pro2024= |