Linked Data
gnomAD v4:
8-19954489-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954489C>A , CM000670.2:g.19954489C>A | GRCh38 |
| NC_000008.10:g.19812000C>A , CM000670.1:g.19812000C>A | GRCh37 |
| NC_000008.9:g.19856280C>A | NCBI36 |
| NG_008855.1:g.20419C>A | |
| NG_008855.2:g.57773C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.775+136C>A MANE Select | ENSP00000497642.1:n.775+136C>A | |
| ENST00000311322.8:c.775+136C>A | ENSP00000309757.6:n.775+136C>A | |
| NM_000237.2:c.775+136C>A | NP_000228.1:n.775+136C>A | |
| NM_000237.3:c.775+136C>A MANE Select | NP_000228.1:n.775+136C>A |