Linked Data
dbSNP Id:
rs12593813
gnomAD v2:
15-68036852-A-G
gnomAD v3:
15-67744514-A-G
gnomAD v4:
15-67744514-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67744514A>G , CM000677.2:g.67744514A>G | GRCh38 |
| NC_000015.9:g.68036852A>G , CM000677.1:g.68036852A>G | GRCh37 |
| NC_000015.8:g.65823906A>G | NCBI36 |
| NG_029143.1:g.206832A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000178640.10:c.1075-3717A>G MANE Select | ENSP00000178640.5:n.1075-3717A>G | |
| ENST00000178640.9:c.1075-3717A>G | ENSP00000178640.5:n.1075-3717A>G | |
| ENST00000340972.8:c.505-3717A>G | ENSP00000342101.4:n.505-3717A>G | |
| ENST00000354498.9:c.967-3717A>G | ENSP00000346493.5:n.967-3717A>G | |
| ENST00000395476.6:c.1045-3717A>G | ENSP00000378859.2:n.1045-3717A>G | |
| ENST00000557869.2:c.52-4055A>G | ENSP00000483771.1:n.52-4055A>G | |
| ENST00000558274.1:n.186-4055A>G | ||
| ENST00000558392.5:n.901-3717A>G | ||
| NM_001206804.1:c.967-3717A>G | NP_001193733.1:n.967-3717A>G | |
| NM_002757.3:c.1045-3717A>G | NP_002748.1:n.1045-3717A>G | |
| NM_145160.2:c.1075-3717A>G | NP_660143.1:n.1075-3717A>G | |
| XM_011521784.1:c.1075-3717A>G | XP_011520086.1:n.1075-3717A>G | |
| XM_011521785.1:c.1075-3717A>G | XP_011520087.1:n.1075-3717A>G | |
| XM_011521786.1:c.1075-4055A>G | XP_011520088.1:n.1075-4055A>G | |
| XM_024449988.1:c.844-3717A>G | XP_024305756.1:n.844-3717A>G | |
| NM_145160.3:c.1075-3717A>G MANE Select | NP_660143.1:n.1075-3717A>G | |
| NM_001206804.2:c.967-3717A>G | NP_001193733.1:n.967-3717A>G | |
| NM_002757.4:c.1045-3717A>G | NP_002748.1:n.1045-3717A>G |