Linked Data
dbSNP Id:
rs2046971
gnomAD v2:
12-88959510-G-C
gnomAD v3:
12-88565733-G-C
gnomAD v4:
12-88565733-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88565733G>C , CM000674.2:g.88565733G>C | GRCh38 |
| NC_000012.11:g.88959510G>C , CM000674.1:g.88959510G>C | GRCh37 |
| NC_000012.10:g.87483641G>C | NCBI36 |
| NG_012098.1:g.19729C>G | |
| NG_012098.2:g.19729C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000347404.10:c.15+14531C>G | ENSP00000054216.5:n.15+14531C>G | |
| ENST00000644744.1:c.15+14531C>G MANE Select | ENSP00000495951.1:n.15+14531C>G | |
| ENST00000646633.1:c.*16+14356C>G | ENSP00000494139.1:n.*16+14356C>G | |
| ENST00000228280.9:c.15+14531C>G | ENSP00000228280.5:n.15+14531C>G | |
| ENST00000347404.9:c.15+14531C>G | ENSP00000054216.5:n.15+14531C>G | |
| ENST00000357116.4:c.-48+14531C>G | ENSP00000474021.1:n.-48+14531C>G | |
| ENST00000552044.1:c.-275-1389C>G | ENSP00000475042.1:n.-275-1389C>G | |
| NM_000899.4:c.15+14531C>G | NP_000890.1:n.15+14531C>G | |
| NM_003994.5:c.15+14531C>G | NP_003985.2:n.15+14531C>G | |
| NM_000899.5:c.15+14531C>G MANE Select | NP_000890.1:n.15+14531C>G | |
| NM_003994.6:c.15+14531C>G | NP_003985.2:n.15+14531C>G |