Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64745722G>A , CM000674.2:g.64745722G>A | GRCh38 |
| NC_000012.11:g.65139502G>A , CM000674.1:g.65139502G>A | GRCh37 |
| NC_000012.10:g.63425769G>A | NCBI36 |
| NG_008955.1:g.18725C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002076.4:c.462C>T MANE Select | NP_002067.1:p.Tyr154= |
| ENST00000258145.8:c.462C>T MANE Select | ENSP00000258145.3:p.Tyr154= |
| NM_002076.3:c.462C>T | NP_002067.1:p.Tyr154= |
| ENST00000258145.7:c.462C>T | ENSP00000258145.3:p.Tyr154= |
| ENST00000418919.6:c.294C>T | ENSP00000413130.2:p.Tyr98= |
| ENST00000541781.5:n.517C>T | |
| ENST00000542058.5:c.402C>T | ENSP00000444819.1:p.Tyr134= |
| ENST00000543646.5:c.558C>T | ENSP00000438497.1:p.Tyr186= |
| ENST00000545273.1:c.234C>T | ENSP00000445055.1:p.Tyr78= |