Linked Data
dbSNP Id:
rs10958476
gnomAD v2:
8-57095808-T-C
gnomAD v3:
8-56183249-T-C
gnomAD v4:
8-56183249-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.56183249T>C , CM000670.2:g.56183249T>C | GRCh38 |
| NC_000008.10:g.57095808T>C , CM000670.1:g.57095808T>C | GRCh37 |
| NC_000008.9:g.57258362T>C | NCBI36 |
| NG_023310.1:g.33052A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316981.8:c.-321-3736A>G MANE Select | ENSP00000325546.3:n.-321-3736A>G | |
| ENST00000316981.7:c.-321-3736A>G | ENSP00000325546.3:n.-321-3736A>G | |
| ENST00000423799.6:c.-103-12060A>G | ENSP00000404067.2:n.-103-12060A>G | |
| ENST00000429357.2:c.-216-12060A>G | ENSP00000416537.2:n.-216-12060A>G | |
| NM_001114634.1:c.-216-12060A>G | NP_001108106.1:n.-216-12060A>G | |
| NM_001114635.1:c.-103-12060A>G | NP_001108107.1:n.-103-12060A>G | |
| NM_002655.2:c.-321-3736A>G | NP_002646.2:n.-321-3736A>G | |
| XM_011517544.1:c.-253-12060A>G | XP_011515846.1:n.-253-12060A>G | |
| XM_011517544.2:c.-253-12060A>G | XP_011515846.1:n.-253-12060A>G | |
| XM_017013576.1:c.-449-3736A>G | XP_016869065.1:n.-449-3736A>G | |
| XM_017013577.1:c.-208-3736A>G | XP_016869066.1:n.-208-3736A>G | |
| NM_002655.3:c.-321-3736A>G MANE Select | NP_002646.2:n.-321-3736A>G | |
| NM_001114634.2:c.-216-12060A>G | NP_001108106.1:n.-216-12060A>G | |
| NM_001114635.2:c.-103-12060A>G | NP_001108107.1:n.-103-12060A>G |