Linked Data
gnomAD v4:
15-42958052-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42958052T>A , CM000677.2:g.42958052T>A | GRCh38 |
| NC_000015.9:g.43250250T>A , CM000677.1:g.43250250T>A | GRCh37 |
| NC_000015.8:g.41037542T>A | NCBI36 |
| NG_012182.1:g.153037A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.4796A>T MANE Select | ENSP00000290650.4:p.Asp1599Val | |
| ENST00000290650.8:c.4796A>T | ENSP00000290650.4:p.Asp1599Val | |
| NM_174916.2:c.4796A>T | NP_777576.1:p.Asp1599Val | |
| NM_174916.3:c.4796A>T MANE Select | NP_777576.1:p.Asp1599Val |