Linked Data
dbSNP Id:
rs1324723499
gnomAD v2:
19-54404093-C-G
gnomAD v3:
19-53900839-C-G
gnomAD v4:
19-53900839-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53900839C>G , CM000681.2:g.53900839C>G | GRCh38 |
| NC_000019.9:g.54404093C>G , CM000681.1:g.54404093C>G | GRCh37 |
| NC_000019.8:g.59095905C>G | NCBI36 |
| NG_009114.1:g.23627C>G , LRG_669:g.23627C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.1575+90C>G | ENSP00000507230.1:n.1575+90C>G | |
| ENST00000682268.1:n.1873+90C>G | ||
| ENST00000682676.1:n.976+90C>G | ||
| ENST00000682902.1:n.1877+90C>G | ||
| ENST00000683513.1:c.1575+90C>G | ENSP00000506809.1:n.1575+90C>G | |
| ENST00000263431.4:c.1575+90C>G MANE Select | ENSP00000263431.3:n.1575+90C>G | |
| ENST00000263431.3:c.1575+90C>G | ENSP00000263431.3:n.1575+90C>G | |
| NM_001316329.1:c.1575+90C>G | NP_001303258.1:n.1575+90C>G | |
| NM_002739.3:c.1575+90C>G , LRG_669t1:c.1575+90C>G | NP_002730.1:n.1575+90C>G | |
| NM_002739.4:c.1575+90C>G | NP_002730.1:n.1575+90C>G | |
| XM_011527108.1:c.666+90C>G | XP_011525410.1:n.666+90C>G | |
| NM_002739.5:c.1575+90C>G MANE Select | NP_002730.1:n.1575+90C>G | |
| NM_001316329.2:c.1575+90C>G | NP_001303258.1:n.1575+90C>G |