Linked Data
dbSNP Id:
rs1449627
gnomAD v2:
11-47290984-T-G
gnomAD v3:
11-47269433-T-G
gnomAD v4:
11-47269433-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47269433T>G , CM000673.2:g.47269433T>G | GRCh38 |
| NC_000011.9:g.47290984T>G , CM000673.1:g.47290984T>G | GRCh37 |
| NC_000011.8:g.47247560T>G | NCBI36 |
| NG_029462.1:g.5058T>G | |
| NG_030392.1:g.26134T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342922.8:c.-300T>G | ENSP00000343902.4:n.-300T>G | |
| ENST00000453571.5:c.-89+150T>G | ENSP00000388255.1:n.-89+150T>G | |
| NM_130470.2:c.-300T>G | NP_569826.2:n.-300T>G | |
| XM_011520431.1:c.-300T>G | XP_011518733.1:n.-300T>G | |
| NM_001376595.1:c.-300T>G | NP_001363524.1:n.-300T>G | |
| NM_001376641.1:c.-300T>G | NP_001363570.1:n.-300T>G | |
| NM_001376651.1:c.-89+150T>G | NP_001363580.1:n.-89+150T>G | |
| NM_130470.3:c.-300T>G | NP_569826.2:n.-300T>G |