Linked Data
dbSNP Id:
rs1592280677
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717834A>G , CM000674.2:g.12717834A>G | GRCh38 |
| NC_000012.11:g.12870768A>G , CM000674.1:g.12870768A>G | GRCh37 |
| NC_000012.10:g.12762035A>G | NCBI36 |
| NG_016341.1:g.5467A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.-6A>G | ENSP00000507272.1:n.-6A>G | |
| ENST00000682620.1:n.1631-991A>G | ||
| ENST00000684771.1:n.585-991A>G | ||
| ENST00000228872.9:c.-6A>G MANE Select | ENSP00000228872.4:n.-6A>G | |
| ENST00000228872.8:c.-6A>G | ENSP00000228872.4:n.-6A>G | |
| ENST00000396340.1:c.-6A>G | ENSP00000379629.1:n.-6A>G | |
| ENST00000477087.1:n.155-991A>G | ||
| NM_004064.4:c.-6A>G | NP_004055.1:n.-6A>G | |
| NM_004064.5:c.-6A>G MANE Select | NP_004055.1:n.-6A>G |