Linked Data
dbSNP Id:
rs768045965
ExAC:
13:48562869 T / C
gnomAD v2:
13-48562869-T-C
gnomAD v3:
13-47988734-T-C
gnomAD v4:
13-47988734-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.47988734T>C , CM000675.2:g.47988734T>C | GRCh38 |
| NC_000013.10:g.48562869T>C , CM000675.1:g.48562869T>C | GRCh37 |
| NC_000013.9:g.47460870T>C | NCBI36 |
| NG_008241.1:g.17594A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642944.1:c.198-31A>G | ENSP00000495674.1:n.198-31A>G | |
| ENST00000643023.1:c.372-31A>G | ENSP00000495664.1:n.372-31A>G | |
| ENST00000643584.1:c.372-31A>G | ENSP00000494987.1:n.372-31A>G | |
| ENST00000644338.1:c.372-31A>G | ENSP00000494723.1:n.372-31A>G | |
| ENST00000646602.1:c.372-31A>G | ENSP00000495250.1:n.372-31A>G | |
| ENST00000646804.1:c.198-31A>G | ENSP00000493977.1:n.198-31A>G | |
| ENST00000646932.1:c.372-31A>G MANE Select | ENSP00000494360.1:n.372-31A>G | |
| ENST00000647361.1:c.*165-31A>G | ENSP00000494607.1:n.*165-31A>G | |
| ENST00000378654.8:c.372-31A>G | ENSP00000367923.3:n.372-31A>G | |
| ENST00000433022.1:c.90+12446A>G | ENSP00000415091.1:n.90+12446A>G | |
| ENST00000434484.5:c.162-31A>G | ENSP00000392771.1:n.162-31A>G | |
| ENST00000470760.2:c.372-31A>G | ENSP00000488974.1:n.372-31A>G | |
| ENST00000497202.6:c.466-31A>G | ENSP00000489175.1:n.466-31A>G | |
| NM_003850.2:c.372-31A>G | NP_003841.1:n.372-31A>G | |
| XM_011535292.1:c.135-31A>G | XP_011533594.1:n.135-31A>G | |
| XM_011535293.1:c.-31-31A>G | XP_011533595.1:n.-31-31A>G | |
| XR_941688.1:n.416-31A>G | ||
| NM_003850.3:c.372-31A>G MANE Select | NP_003841.1:n.372-31A>G |