Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765120C>G , CM000674.2:g.57765120C>G | GRCh38 |
| NC_000012.11:g.58158903C>G , CM000674.1:g.58158903C>G | GRCh37 |
| NC_000012.10:g.56445170C>G | NCBI36 |
| NG_007076.1:g.7074G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000546609.2:n.593G>C | ||
| ENST00000713544.1:c.762G>C | ENSP00000518840.1:p.Ser254= | |
| ENST00000713545.1:c.739G>C | ENSP00000518841.1:p.Gly247Arg | |
| ENST00000228606.9:c.681G>C MANE Select | ENSP00000228606.4:p.Ser227= | |
| ENST00000228606.8:c.681G>C | ENSP00000228606.4:p.Ser227= | |
| ENST00000546567.5:c.-25G>C | ENSP00000449472.1:n.-25G>C | |
| ENST00000546609.1:c.593G>C | ||
| ENST00000547344.5:n.820G>C | ||
| ENST00000547451.1:n.481G>C | ||
| NM_000785.3:c.681G>C | NP_000776.1:p.Ser227= | |
| NM_000785.4:c.681G>C MANE Select | NP_000776.1:p.Ser227= |