Linked Data
dbSNP Id:
rs1308534047
gnomAD v2:
7-18140581-C-G
gnomAD v3:
7-18100958-C-G
gnomAD v4:
7-18100958-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.18100958C>G , CM000669.2:g.18100958C>G | GRCh38 |
| NC_000007.13:g.18140581C>G , CM000669.1:g.18140581C>G | GRCh37 |
| NC_000007.12:g.18107106C>G | NCBI36 |
| NG_023250.2:g.19010C>G | |
| NG_023250.3:g.19010C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707077.1:c.-97+13745C>G | ENSP00000516728.1:n.-97+13745C>G | |
| ENST00000417496.6:c.-97+13745C>G | ENSP00000401669.2:n.-97+13745C>G | |
| ENST00000455069.1:n.153+12923C>G | ||
| NM_001204144.1:c.-97+13745C>G | NP_001191073.1:n.-97+13745C>G | |
| XM_011515626.1:c.-97+12923C>G | XP_011513928.1:n.-97+12923C>G | |
| XM_011515631.1:c.-97+13745C>G | XP_011513933.1:n.-97+13745C>G | |
| NM_001204144.2:c.-97+13745C>G | NP_001191073.1:n.-97+13745C>G | |
| NM_001321868.1:c.-97+13745C>G | NP_001308797.1:n.-97+13745C>G | |
| NM_001321869.1:c.-97+13745C>G | NP_001308798.1:n.-97+13745C>G | |
| NM_001321870.1:c.-97+13745C>G | NP_001308799.1:n.-97+13745C>G | |
| NM_001321871.1:c.-97+13745C>G | NP_001308800.1:n.-97+13745C>G | |
| NM_001321872.1:c.-97+13745C>G | NP_001308801.1:n.-97+13745C>G | |
| NM_001321873.1:c.-97+13745C>G | NP_001308802.1:n.-97+13745C>G | |
| NM_001204144.3:c.-97+13745C>G | NP_001191073.1:n.-97+13745C>G | |
| NM_001321868.2:c.-97+13745C>G | NP_001308797.1:n.-97+13745C>G | |
| NM_001321869.2:c.-97+13745C>G | NP_001308798.1:n.-97+13745C>G | |
| NM_001321870.2:c.-97+13745C>G | NP_001308799.1:n.-97+13745C>G | |
| NM_001321871.2:c.-97+13745C>G | NP_001308800.1:n.-97+13745C>G | |
| NM_001321872.2:c.-97+13745C>G | NP_001308801.1:n.-97+13745C>G | |
| NM_001321873.2:c.-97+13745C>G | NP_001308802.1:n.-97+13745C>G |