Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765959G= , CM000674.2:g.57765959G= | GRCh38 |
| NC_000012.11:g.58159742G= , CM000674.1:g.58159742G= | GRCh37 |
| NC_000012.10:g.56446009G= | NCBI36 |
| NG_007076.1:g.6235C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.298+48C= | ||
| ENST00000713544.1:c.386+48C= | ENSP00000518840.1:n.386+48C= | |
| ENST00000713545.1:c.386+48C= | ENSP00000518841.1:n.386+48C= | |
| ENST00000228606.9:c.386+48C= MANE Select | ENSP00000228606.4:n.386+48C= | |
| ENST00000228606.8:c.386+48C= | ENSP00000228606.4:n.386+48C= | |
| ENST00000546496.1:n.214+48C= | ||
| ENST00000546609.1:c.298+48C= | ||
| ENST00000547344.5:n.440+48C= | ||
| ENST00000552186.1:n.505+48C= | ||
| NM_000785.3:c.386+48C= | NP_000776.1:n.386+48C= | |
| NM_000785.4:c.386+48C= MANE Select | NP_000776.1:n.386+48C= |