Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43068019T>G , CM000677.2:g.43068019T>G | GRCh38 |
| NC_000015.9:g.43360217T>G , CM000677.1:g.43360217T>G | GRCh37 |
| NC_000015.8:g.41147509T>G | NCBI36 |
| NG_012182.1:g.43070A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.677A>C MANE Select | ENSP00000290650.4:p.Tyr226Ser | |
| ENST00000290650.8:c.677A>C | ENSP00000290650.4:p.Tyr226Ser | |
| ENST00000546274.6:c.677A>C | ENSP00000477932.1:p.Tyr226Ser | |
| ENST00000563239.1:c.*202+2880A>C | ENSP00000456502.1:n.*202+2880A>C | |
| NM_174916.2:c.677A>C | NP_777576.1:p.Tyr226Ser | |
| NM_174916.3:c.677A>C MANE Select | NP_777576.1:p.Tyr226Ser |