Linked Data
ClinVar Variation Id:
343580
ClinVar RCV Id:
RCV000309231
dbSNP Id:
rs750327573
gnomAD v2:
3-142168199-A-C
gnomAD v3:
3-142449357-A-C
gnomAD v4:
3-142449357-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142449357A>C , CM000665.2:g.142449357A>C | GRCh38 |
| NC_000003.11:g.142168199A>C , CM000665.1:g.142168199A>C | GRCh37 |
| NC_000003.10:g.143650889A>C | NCBI36 |
| NG_008951.1:g.134470T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350721.9:c.*72T>G MANE Select | ENSP00000343741.4:n.*72T>G | |
| ENST00000513291.2:n.6716T>G | ||
| ENST00000653893.1:n.2865T>G | ||
| ENST00000654170.1:n.2850T>G | ||
| ENST00000656114.1:n.3093T>G | ||
| ENST00000656590.1:c.6934T>G | ||
| ENST00000658083.1:n.3187T>G | ||
| ENST00000661310.1:c.*72T>G | ENSP00000499589.1:n.*72T>G | |
| ENST00000665483.1:n.5547T>G | ||
| ENST00000666447.1:n.4510T>G | ||
| ENST00000666943.1:n.4739T>G | ||
| ENST00000350721.8:c.*72T>G | ENSP00000343741.4:n.*72T>G | |
| ENST00000504521.5:c.596T>G | ENSP00000422553.1:n.596T>G | |
| ENST00000513291.1:c.5071T>G | ||
| ENST00000515810.1:c.433T>G | ENSP00000421870.1:n.433T>G | |
| NM_001184.3:c.*72T>G | NP_001175.2:n.*72T>G | |
| XM_011512924.1:c.*72T>G | XP_011511226.1:n.*72T>G | |
| XM_011512925.1:c.*72T>G | XP_011511227.1:n.*72T>G | |
| XR_924147.1:n.10764T>G | ||
| XR_924148.1:n.8239T>G | ||
| NM_001354579.1:c.*72T>G | NP_001341508.1:n.*72T>G | |
| XR_001740179.2:n.8233T>G | ||
| XR_924148.2:n.8239T>G | ||
| NM_001184.4:c.*72T>G MANE Select | NP_001175.2:n.*72T>G | |
| NM_001354579.2:c.*72T>G | NP_001341508.1:n.*72T>G |