Linked Data
ClinVar Variation Id:
362915
dbSNP Id:
rs527518565
gnomAD v2:
8-38325748-A-C
gnomAD v3:
8-38468230-A-C
gnomAD v4:
8-38468230-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38468230A>C , CM000670.2:g.38468230A>C | GRCh38 |
| NC_000008.10:g.38325748A>C , CM000670.1:g.38325748A>C | GRCh37 |
| NC_000008.9:g.38444905A>C | NCBI36 |
| NG_007729.1:g.5605T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703405.1:c.-338T>G | ENSP00000515291.1:n.-338T>G | |
| ENST00000341462.9:c.-338T>G | ENSP00000340636.7:n.-338T>G | |
| ENST00000683276.1:n.372T>G | ||
| ENST00000683765.1:c.-338T>G | ENSP00000507039.1:n.-338T>G | |
| ENST00000683795.1:n.372T>G | ||
| ENST00000683815.1:c.-338T>G | ENSP00000507997.1:n.-338T>G | |
| ENST00000683948.1:n.372T>G | ||
| ENST00000684654.1:c.-338T>G | ENSP00000507205.1:n.-338T>G | |
| ENST00000447712.7:c.-338T>G MANE Select | ENSP00000400162.2:n.-338T>G | |
| ENST00000326324.10:c.-338T>G | ENSP00000327229.6:n.-338T>G | |
| ENST00000335922.9:c.-430T>G | ENSP00000337247.5:n.-430T>G | |
| ENST00000341462.8:c.-338T>G | ENSP00000340636.6:n.-338T>G | |
| ENST00000356207.9:c.-338T>G | ENSP00000348537.5:n.-338T>G | |
| ENST00000397091.9:c.-338T>G | ENSP00000380280.5:n.-338T>G | |
| ENST00000447712.6:c.-338T>G | ENSP00000400162.2:n.-338T>G | |
| ENST00000470826.5:n.79T>G | ||
| ENST00000496296.5:n.406T>G | ||
| ENST00000532791.5:c.-338T>G | ENSP00000432972.1:n.-338T>G | |
| ENST00000619564.3:c.-338T>G | ENSP00000484553.1:n.-338T>G | |
| NM_001174063.1:c.-338T>G | NP_001167534.1:n.-338T>G | |
| NM_001174064.1:c.-430T>G | NP_001167535.1:n.-430T>G | |
| NM_015850.3:c.-338T>G | NP_056934.2:n.-338T>G | |
| NM_023105.2:c.-338T>G | NP_075593.1:n.-338T>G | |
| NM_023106.2:c.-338T>G | NP_075594.1:n.-338T>G | |
| NM_023110.2:c.-338T>G | NP_075598.2:n.-338T>G | |
| XM_006716303.2:c.-338T>G | XP_006716366.1:n.-338T>G | |
| XM_006716306.2:c.-338T>G | XP_006716369.1:n.-338T>G | |
| XM_006716310.2:c.-338T>G | XP_006716373.1:n.-338T>G | |
| XM_006716313.2:c.-338T>G | XP_006716376.1:n.-338T>G | |
| NM_001354367.1:c.-338T>G | NP_001341296.1:n.-338T>G | |
| NM_001354368.1:c.-338T>G | NP_001341297.1:n.-338T>G | |
| NM_001354370.1:c.-338T>G | NP_001341299.1:n.-338T>G | |
| XM_006716303.3:c.-338T>G | XP_006716366.1:n.-338T>G | |
| XM_006716310.3:c.-338T>G | XP_006716373.1:n.-338T>G | |
| XM_017013224.2:c.-338T>G | XP_016868713.1:n.-338T>G | |
| NM_001174063.2:c.-338T>G | NP_001167534.1:n.-338T>G | |
| NM_001174064.2:c.-430T>G | NP_001167535.1:n.-430T>G | |
| NM_001354368.2:c.-338T>G | NP_001341297.1:n.-338T>G | |
| NM_015850.4:c.-338T>G | NP_056934.2:n.-338T>G | |
| NM_023105.3:c.-338T>G | NP_075593.1:n.-338T>G | |
| NM_023106.3:c.-338T>G | NP_075594.1:n.-338T>G | |
| NM_023110.3:c.-338T>G MANE Select | NP_075598.2:n.-338T>G | |
| NM_001354367.2:c.-338T>G | NP_001341296.1:n.-338T>G | |
| NM_001354370.2:c.-338T>G | NP_001341299.1:n.-338T>G |