Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.76968585C>T , CM000667.2:g.76968585C>T | GRCh38 |
| NC_000005.9:g.76264410C>T , CM000667.1:g.76264410C>T | GRCh37 |
| NC_000005.8:g.76300166C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274368.9:c.812-143C>T MANE Select | ENSP00000274368.4:n.812-143C>T | |
| ENST00000274368.8:c.812-143C>T | ENSP00000274368.4:n.812-143C>T | |
| ENST00000503763.1:n.227-143C>T | ||
| ENST00000514258.1:n.311+5125C>T | ||
| NM_001882.3:c.812-143C>T | NP_001873.2:n.812-143C>T | |
| XR_948235.1:n.1111+5125C>T | ||
| XR_948235.3:n.1091+5125C>T | ||
| NM_001882.4:c.812-143C>T MANE Select | NP_001873.2:n.812-143C>T |