Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766175C>T , CM000674.2:g.57766175C>T | GRCh38 |
| NC_000012.11:g.58159958C>T , CM000674.1:g.58159958C>T | GRCh37 |
| NC_000012.10:g.56446225C>T | NCBI36 |
| NG_007076.1:g.6019G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.130G>A | ||
| ENST00000713544.1:c.218G>A | ENSP00000518840.1:p.Gly73Glu | |
| ENST00000713545.1:c.218G>A | ENSP00000518841.1:p.Gly73Glu | |
| ENST00000228606.9:c.218G>A MANE Select | ENSP00000228606.4:p.Gly73Glu | |
| ENST00000228606.8:c.218G>A | ENSP00000228606.4:p.Gly73Glu | |
| ENST00000546496.1:n.46G>A | ||
| ENST00000546609.1:c.130G>A | ||
| ENST00000547344.5:n.272G>A | ||
| ENST00000552186.1:n.337G>A | ||
| NM_000785.3:c.218G>A | NP_000776.1:p.Gly73Glu | |
| NM_000785.4:c.218G>A MANE Select | NP_000776.1:p.Gly73Glu |