Linked Data
dbSNP Id:
rs1168557420
gnomAD v2:
19-39738495-C-T
gnomAD v3:
19-39247855-C-T
gnomAD v4:
19-39247855-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39247855C>T , CM000681.2:g.39247855C>T | GRCh38 |
| NC_000019.9:g.39738495C>T , CM000681.1:g.39738495C>T | GRCh37 |
| NC_000019.8:g.44430335C>T | NCBI36 |
| NG_042193.1:g.2117G>A | |
| NG_055295.1:g.6002G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606380.2:c.224-4G>A | ENSP00000476098.1:n.224-4G>A | |
| ENST00000610963.1:c.223-4G>A | ENSP00000481371.1:n.223-4G>A | |
| ENST00000616270.4:c.223+69G>A | ENSP00000480679.1:n.223+69G>A | |
| ENST00000634680.1:c.152-392G>A | ENSP00000489240.1:n.152-392G>A | |
| ENST00000634967.1:c.223+69G>A | ENSP00000489559.1:n.223+69G>A | |
| NR_074079.1:n.501-4G>A |