Linked Data
gnomAD v4:
19-39247662-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39247662A>G , CM000681.2:g.39247662A>G | GRCh38 |
| NC_000019.9:g.39738302A>G , CM000681.1:g.39738302A>G | GRCh37 |
| NC_000019.8:g.44430142A>G | NCBI36 |
| NG_042193.1:g.2310T>C | |
| NG_055295.1:g.6195T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606380.2:c.367+46T>C | ENSP00000476098.1:n.367+46T>C | |
| ENST00000610963.1:c.366+46T>C | ENSP00000481371.1:n.366+46T>C | |
| ENST00000616270.4:c.228T>C | ENSP00000480679.1:p.Ser76= | |
| ENST00000634680.1:c.152-199T>C | ENSP00000489240.1:n.152-199T>C | |
| ENST00000634967.1:c.224-199T>C | ENSP00000489559.1:n.224-199T>C | |
| NR_074079.1:n.644+46T>C |