Linked Data
gnomAD v4:
19-39247623-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39247623G>T , CM000681.2:g.39247623G>T | GRCh38 |
| NC_000019.9:g.39738263G>T , CM000681.1:g.39738263G>T | GRCh37 |
| NC_000019.8:g.44430103G>T | NCBI36 |
| NG_042193.1:g.2349C>A | |
| NG_055295.1:g.6234C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606380.2:c.367+85C>A | ENSP00000476098.1:n.367+85C>A | |
| ENST00000610963.1:c.366+85C>A | ENSP00000481371.1:n.366+85C>A | |
| ENST00000616270.4:c.267C>A | ENSP00000480679.1:p.Ala89= | |
| ENST00000634680.1:c.152-160C>A | ENSP00000489240.1:n.152-160C>A | |
| ENST00000634967.1:c.224-160C>A | ENSP00000489559.1:n.224-160C>A | |
| NR_074079.1:n.644+85C>A |