Linked Data
gnomAD v4:
17-63606242-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63606242C>A , CM000679.2:g.63606242C>A | GRCh38 |
| NC_000017.10:g.61683602C>A , CM000679.1:g.61683602C>A | GRCh37 |
| NC_000017.9:g.59037334C>A | NCBI36 |
| NG_016979.1:g.10372C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682060.1:n.150-71C>A | ||
| ENST00000684587.1:c.385-71C>A | ENSP00000507435.1:n.385-71C>A | |
| ENST00000690765.1:c.*214-71C>A | ENSP00000510085.1:n.*214-71C>A | |
| ENST00000258975.7:c.388-71C>A MANE Select | ENSP00000258975.6:n.388-71C>A | |
| ENST00000258975.6:c.388-71C>A | ENSP00000258975.6:n.388-71C>A | |
| ENST00000581120.1:n.590-71C>A | ||
| NM_016360.3:c.388-71C>A | NP_057444.2:n.388-71C>A | |
| NM_016360.4:c.388-71C>A MANE Select | NP_057444.2:n.388-71C>A |