Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34256250T>A , CM000679.2:g.34256250T>A | GRCh38 |
| NC_000017.10:g.32583269T>A , CM000679.1:g.32583269T>A | GRCh37 |
| NC_000017.9:g.29607382T>A | NCBI36 |
| NG_012123.1:g.5974T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002982.4:c.105T>A MANE Select | NP_002973.1:p.Cys35Ter |
| ENST00000225831.4:c.105T>A MANE Select | ENSP00000225831.4:p.Cys35Ter |
| NM_002982.3:c.105T>A | NP_002973.1:p.Cys35Ter |
| ENST00000580907.5:c.105T>A | ENSP00000462156.1:p.Cys35Ter |
| ENST00000580907.6:c.105T>A | ENSP00000462156.1:p.Cys35Ter |
| ENST00000582017.1:n.43T>A | |
| ENST00000624362.2:n.966T>A |