Linked Data
ClinVar Variation Id:
330061
ClinVar RCV Id:
RCV000346000
dbSNP Id:
rs886054612
gnomAD v2:
19-54393282-G-T
gnomAD v3:
19-53890028-G-T
gnomAD v4:
19-53890028-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53890028G>T , CM000681.2:g.53890028G>T | GRCh38 |
| NC_000019.9:g.54393282G>T , CM000681.1:g.54393282G>T | GRCh37 |
| NC_000019.8:g.59085094G>T | NCBI36 |
| NG_009114.1:g.12816G>T , LRG_669:g.12816G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.529+11G>T | ENSP00000507230.1:n.529+11G>T | |
| ENST00000682268.1:n.827+11G>T | ||
| ENST00000682902.1:n.831+11G>T | ||
| ENST00000683513.1:c.529+11G>T | ENSP00000506809.1:n.529+11G>T | |
| ENST00000263431.4:c.529+11G>T MANE Select | ENSP00000263431.3:n.529+11G>T | |
| ENST00000263431.3:c.529+11G>T | ENSP00000263431.3:n.529+11G>T | |
| ENST00000474397.5:c.145+11G>T | ENSP00000471271.1:n.145+11G>T | |
| NM_001316329.1:c.529+11G>T | NP_001303258.1:n.529+11G>T | |
| NM_002739.3:c.529+11G>T , LRG_669t1:c.529+11G>T | NP_002730.1:n.529+11G>T | |
| NM_002739.4:c.529+11G>T | NP_002730.1:n.529+11G>T | |
| NM_002739.5:c.529+11G>T MANE Select | NP_002730.1:n.529+11G>T | |
| NM_001316329.2:c.529+11G>T | NP_001303258.1:n.529+11G>T |