Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766071A>C , CM000674.2:g.57766071A>C | GRCh38 |
| NC_000012.11:g.58159854A>C , CM000674.1:g.58159854A>C | GRCh37 |
| NC_000012.10:g.56446121A>C | NCBI36 |
| NG_007076.1:g.6123T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.234T>G | ||
| ENST00000713544.1:c.322T>G | ENSP00000518840.1:p.Cys108Gly | |
| ENST00000713545.1:c.322T>G | ENSP00000518841.1:p.Cys108Gly | |
| ENST00000228606.9:c.322T>G MANE Select | ENSP00000228606.4:p.Cys108Gly | |
| ENST00000228606.8:c.322T>G | ENSP00000228606.4:p.Cys108Gly | |
| ENST00000546496.1:n.150T>G | ||
| ENST00000546609.1:c.234T>G | ||
| ENST00000547344.5:n.376T>G | ||
| ENST00000552186.1:n.441T>G | ||
| NM_000785.3:c.322T>G | NP_000776.1:p.Cys108Gly | |
| NM_000785.4:c.322T>G MANE Select | NP_000776.1:p.Cys108Gly |