Linked Data
ClinVar Variation Id:
727373
ClinVar RCV Id:
RCV000901702
dbSNP Id:
rs370955831
ExAC:
3:138426082 T / C
gnomAD v2:
3-138426082-T-C
gnomAD v3:
3-138707240-T-C
gnomAD v4:
3-138707240-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138707240T>C , CM000665.2:g.138707240T>C | GRCh38 |
| NC_000003.11:g.138426082T>C , CM000665.1:g.138426082T>C | GRCh37 |
| NC_000003.10:g.139908772T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674063.1:c.1449A>G MANE Select | ENSP00000501150.1:p.Pro483= | |
| ENST00000289153.6:c.1449A>G | ENSP00000289153.2:p.Pro483= | |
| ENST00000462898.5:c.*1018A>G | ENSP00000420108.1:n.*1018A>G | |
| ENST00000469284.6:c.98-2747A>G | ENSP00000419513.2:n.98-2747A>G | |
| ENST00000473435.1:c.96A>G | ENSP00000419091.1:p.Pro32= | |
| ENST00000477593.5:c.1449A>G | ENSP00000418143.1:p.Pro483= | |
| ENST00000481749.5:n.382A>G | ||
| ENST00000493568.5:c.395A>G | ||
| ENST00000544716.5:c.-132-2747A>G | ENSP00000438259.1:n.-132-2747A>G | |
| NM_001256045.1:c.36A>G | NP_001242974.1:p.Pro12= | |
| NM_006219.2:c.1449A>G | NP_006210.1:p.Pro483= | |
| XM_005247530.2:c.1449A>G | XP_005247587.1:p.Pro483= | |
| XM_006713659.2:c.1449A>G | XP_006713722.1:p.Pro483= | |
| XM_011512895.1:c.1449A>G | XP_011511197.1:p.Pro483= | |
| XM_011512896.1:c.996A>G | XP_011511198.1:p.Pro332= | |
| XM_006713659.3:c.1449A>G | XP_006713722.1:p.Pro483= | |
| XM_011512895.2:c.1449A>G | XP_011511197.1:p.Pro483= | |
| XM_017006619.1:c.1449A>G | XP_016862108.1:p.Pro483= | |
| XM_017006621.2:c.261A>G | XP_016862110.1:p.Pro87= | |
| XM_024453596.1:c.1278A>G | XP_024309364.1:p.Pro426= | |
| XM_024453597.1:c.261A>G | XP_024309365.1:p.Pro87= | |
| XR_002959542.1:n.1294A>G | ||
| NM_006219.3:c.1449A>G MANE Select | NP_006210.1:p.Pro483= | |
| NM_001256045.2:c.36A>G | NP_001242974.1:p.Pro12= |