Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766199T>C , CM000674.2:g.57766199T>C | GRCh38 |
| NC_000012.11:g.58159982T>C , CM000674.1:g.58159982T>C | GRCh37 |
| NC_000012.10:g.56446249T>C | NCBI36 |
| NG_007076.1:g.5995A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000785.4:c.196-2A>G MANE Select | NP_000776.1:n.196-2A>G |
| ENST00000228606.9:c.196-2A>G MANE Select | ENSP00000228606.4:n.196-2A>G |
| NM_000785.3:c.196-2A>G | NP_000776.1:n.196-2A>G |
| ENST00000228606.8:c.196-2A>G | ENSP00000228606.4:n.196-2A>G |
| ENST00000546496.1:n.24-2A>G | |
| ENST00000546609.1:c.108-2A>G | |
| ENST00000546609.2:n.108-2A>G | |
| ENST00000547344.5:n.250-2A>G | |
| ENST00000552186.1:n.313A>G | |
| ENST00000713544.1:c.196-2A>G | ENSP00000518840.1:n.196-2A>G |
| ENST00000713545.1:c.196-2A>G | ENSP00000518841.1:n.196-2A>G |