Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.100402434T>C , CM000674.2:g.100402434T>C | GRCh38 |
| NC_000012.11:g.100796212T>C , CM000674.1:g.100796212T>C | GRCh37 |
| NC_000012.10:g.99320343T>C | NCBI36 |
| NG_021175.1:g.50356T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139319.3:c.858T>C MANE Select | NP_647480.1:p.Tyr286= |
| ENST00000323346.10:c.858T>C MANE Select | ENSP00000316909.4:p.Tyr286= |
| NM_001145288.1:c.858T>C | NP_001138760.1:p.Tyr286= |
| NM_001145288.2:c.858T>C | NP_001138760.1:p.Tyr286= |
| NM_139319.2:c.858T>C | NP_647480.1:p.Tyr286= |
| ENST00000323346.9:c.858T>C | ENSP00000316909.4:p.Tyr286= |
| ENST00000392989.3:c.858T>C | ENSP00000376715.3:p.Tyr286= |