Linked Data
dbSNP Id:
rs755036563
ExAC:
19:54385617 C / T
gnomAD v2:
19-54385617-C-T
gnomAD v3:
19-53882363-C-T
gnomAD v4:
19-53882363-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53882363C>T , CM000681.2:g.53882363C>T | GRCh38 |
| NC_000019.9:g.54385617C>T , CM000681.1:g.54385617C>T | GRCh37 |
| NC_000019.8:g.59077429C>T | NCBI36 |
| NG_009114.1:g.5151C>T , LRG_669:g.5151C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.-132C>T | ENSP00000507230.1:n.-132C>T | |
| ENST00000682268.1:n.167C>T | ||
| ENST00000682902.1:n.171C>T | ||
| ENST00000683513.1:c.-132C>T | ENSP00000506809.1:n.-132C>T | |
| ENST00000263431.4:c.-132C>T MANE Select | ENSP00000263431.3:n.-132C>T | |
| ENST00000263431.3:c.-132C>T | ENSP00000263431.3:n.-132C>T | |
| ENST00000419486.1:c.-323+4C>T | ENSP00000387919.2:n.-323+4C>T | |
| ENST00000474397.5:c.-322-194C>T | ENSP00000471271.1:n.-322-194C>T | |
| ENST00000479081.5:c.-322-194C>T | ENSP00000471544.1:n.-322-194C>T | |
| NM_001316329.1:c.-132C>T | NP_001303258.1:n.-132C>T | |
| NM_002739.3:c.-132C>T , LRG_669t1:c.-132C>T | NP_002730.1:n.-132C>T | |
| NM_002739.4:c.-132C>T | NP_002730.1:n.-132C>T | |
| NM_002739.5:c.-132C>T MANE Select | NP_002730.1:n.-132C>T | |
| NM_001316329.2:c.-132C>T | NP_001303258.1:n.-132C>T |