Linked Data
gnomAD v4:
5-179129910-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179129910G>A , CM000667.2:g.179129910G>A | GRCh38 |
| NC_000005.9:g.178556911G>A , CM000667.1:g.178556911G>A | GRCh37 |
| NC_000005.8:g.178489517G>A | NCBI36 |
| NG_023212.2:g.220419C>T | |
| NG_023212.3:g.220419C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698889.1:c.2457+22C>T | ENSP00000514008.1:n.2457+22C>T | |
| ENST00000251582.12:c.2457+22C>T MANE Select | ENSP00000251582.7:n.2457+22C>T | |
| ENST00000518335.3:c.2457+22C>T | ENSP00000489888.2:n.2457+22C>T | |
| ENST00000251582.11:c.2457+22C>T | ENSP00000251582.7:n.2457+22C>T | |
| NM_014244.4:c.2457+22C>T | NP_055059.2:n.2457+22C>T | |
| NM_014244.5:c.2457+22C>T MANE Select | NP_055059.2:n.2457+22C>T |