Linked Data
gnomAD v4:
19-39247614-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39247614G>C , CM000681.2:g.39247614G>C | GRCh38 |
| NC_000019.9:g.39738254G>C , CM000681.1:g.39738254G>C | GRCh37 |
| NC_000019.8:g.44430094G>C | NCBI36 |
| NG_042193.1:g.2358C>G | |
| NG_055295.1:g.6243C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606380.2:c.367+94C>G | ENSP00000476098.1:n.367+94C>G | |
| ENST00000610963.1:c.366+94C>G | ENSP00000481371.1:n.366+94C>G | |
| ENST00000616270.4:c.276C>G | ENSP00000480679.1:p.Ser92= | |
| ENST00000634680.1:c.152-151C>G | ENSP00000489240.1:n.152-151C>G | |
| ENST00000634967.1:c.224-151C>G | ENSP00000489559.1:n.224-151C>G | |
| NR_074079.1:n.644+94C>G |