Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34256250T>C , CM000679.2:g.34256250T>C | GRCh38 |
| NC_000017.10:g.32583269T>C , CM000679.1:g.32583269T>C | GRCh37 |
| NC_000017.9:g.29607382T>C | NCBI36 |
| NG_012123.1:g.5974T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002982.4:c.105T>C MANE Select | NP_002973.1:p.Cys35= |
| ENST00000225831.4:c.105T>C MANE Select | ENSP00000225831.4:p.Cys35= |
| NM_002982.3:c.105T>C | NP_002973.1:p.Cys35= |
| ENST00000580907.5:c.105T>C | ENSP00000462156.1:p.Cys35= |
| ENST00000580907.6:c.105T>C | ENSP00000462156.1:p.Cys35= |
| ENST00000582017.1:n.43T>C | |
| ENST00000624362.2:n.966T>C |