Linked Data
gnomAD v4:
15-42958025-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42958025G>T , CM000677.2:g.42958025G>T | GRCh38 |
| NC_000015.9:g.43250223G>T , CM000677.1:g.43250223G>T | GRCh37 |
| NC_000015.8:g.41037515G>T | NCBI36 |
| NG_012182.1:g.153064C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.4823C>A MANE Select | ENSP00000290650.4:p.Ala1608Asp | |
| ENST00000290650.8:c.4823C>A | ENSP00000290650.4:p.Ala1608Asp | |
| NM_174916.2:c.4823C>A | NP_777576.1:p.Ala1608Asp | |
| NM_174916.3:c.4823C>A MANE Select | NP_777576.1:p.Ala1608Asp |