Linked Data
ClinVar Variation Id:
321900
dbSNP Id:
rs886052614
gnomAD v2:
17-1579115-C-T
gnomAD v3:
17-1675821-C-T
gnomAD v4:
17-1675821-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1675821C>T , CM000679.2:g.1675821C>T | GRCh38 |
| NC_000017.10:g.1579115C>T , CM000679.1:g.1579115C>T | GRCh37 |
| NC_000017.9:g.1525865C>T | NCBI36 |
| NG_009118.1:g.14062G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.2680-9G>A | ENSP00000460849.2:n.2680-9G>A | |
| ENST00000703538.1:c.*2403-9G>A | ENSP00000515361.1:n.*2403-9G>A | |
| ENST00000703540.1:c.2680-9G>A | ENSP00000515362.1:n.2680-9G>A | |
| ENST00000703541.1:c.2545-9G>A | ENSP00000515363.1:n.2545-9G>A | |
| ENST00000304992.11:c.2680-9G>A MANE Select | ENSP00000304350.6:n.2680-9G>A | |
| ENST00000304992.10:c.2680-9G>A | ENSP00000304350.6:n.2680-9G>A | |
| ENST00000572621.5:c.2680-9G>A | ENSP00000460348.1:n.2680-9G>A | |
| ENST00000577001.1:c.2515-9G>A | ENSP00000458151.1:n.2515-9G>A | |
| NM_006445.3:c.2680-9G>A | NP_006436.3:n.2680-9G>A | |
| XM_024450537.1:c.2680-9G>A | XP_024306305.1:n.2680-9G>A | |
| NM_006445.4:c.2680-9G>A MANE Select | NP_006436.3:n.2680-9G>A |