Linked Data
dbSNP Id:
rs528325648
gnomAD v2:
19-39738525-G-C
gnomAD v3:
19-39247885-G-C
gnomAD v4:
19-39247885-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39247885G>C , CM000681.2:g.39247885G>C | GRCh38 |
| NC_000019.9:g.39738525G>C , CM000681.1:g.39738525G>C | GRCh37 |
| NC_000019.8:g.44430365G>C | NCBI36 |
| NG_042193.1:g.2087C>G | |
| NG_055295.1:g.5972C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606380.2:c.224-34C>G | ENSP00000476098.1:n.224-34C>G | |
| ENST00000610963.1:c.223-34C>G | ENSP00000481371.1:n.223-34C>G | |
| ENST00000616270.4:c.223+39C>G | ENSP00000480679.1:n.223+39C>G | |
| ENST00000634680.1:c.152-422C>G | ENSP00000489240.1:n.152-422C>G | |
| ENST00000634967.1:c.223+39C>G | ENSP00000489559.1:n.223+39C>G | |
| NR_074079.1:n.501-34C>G |