Linked Data
ClinVar Variation Id:
1124837
dbSNP Id:
rs766366107
ExAC:
3:142188968 T / C
gnomAD v2:
3-142188968-T-C
gnomAD v3:
3-142470126-T-C
gnomAD v4:
3-142470126-T-C
MyVariant Identifiers:
chr3:g.142188968T>C (hg19)
chr3:g.142188968_142188970delinsCAG (hg19)
chr3:g.142470126T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142470126T>C , CM000665.2:g.142470126T>C | GRCh38 |
| NC_000003.11:g.142188968T>C , CM000665.1:g.142188968T>C | GRCh37 |
| NC_000003.10:g.143671658T>C | NCBI36 |
| NG_008951.1:g.113701A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350721.9:c.6279A>G MANE Select | ENSP00000343741.4:p.Leu2093= | |
| ENST00000513291.2:n.1463A>G | ||
| ENST00000654170.1:n.1122A>G | ||
| ENST00000656590.1:c.5069A>G | ||
| ENST00000661310.1:c.6087A>G | ENSP00000499589.1:p.Leu2029= | |
| ENST00000665483.1:n.134A>G | ||
| ENST00000666447.1:n.114A>G | ||
| ENST00000666943.1:n.1743A>G | ||
| ENST00000350721.8:c.6279A>G | ENSP00000343741.4:p.Leu2093= | |
| NM_001184.3:c.6279A>G | NP_001175.2:p.Leu2093= | |
| XM_011512924.1:c.6285A>G | XP_011511226.1:p.Leu2095= | |
| XM_011512925.1:c.6093A>G | XP_011511227.1:p.Leu2031= | |
| XR_924147.1:n.6374A>G | ||
| XR_924148.1:n.6374A>G | ||
| XR_924149.1:n.6253A>G | ||
| NM_001354579.1:c.6087A>G | NP_001341508.1:p.Leu2029= | |
| XR_001740179.2:n.6368A>G | ||
| XR_001740180.2:n.6422A>G | ||
| XR_001740181.2:n.6301A>G | ||
| XR_001740182.1:n.6253A>G | ||
| XR_002959543.1:n.6478A>G | ||
| XR_924148.2:n.6374A>G | ||
| NM_001184.4:c.6279A>G MANE Select | NP_001175.2:p.Leu2093= | |
| NM_001354579.2:c.6087A>G | NP_001341508.1:p.Leu2029= |