Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34256892C= , CM000679.2:g.34256892C= | GRCh38 |
| NC_000017.10:g.32583911C= , CM000679.1:g.32583911C= | GRCh37 |
| NC_000017.9:g.29608024C= | NCBI36 |
| NG_012123.1:g.6616C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002982.4:c.*65C= MANE Select | NP_002973.1:n.*65C= |
| ENST00000225831.4:c.*65C= MANE Select | ENSP00000225831.4:n.*65C= |
| NM_002982.3:c.*65C= | NP_002973.1:n.*65C= |
| ENST00000580907.6:c.*549C= | ENSP00000462156.1:n.*549C= |
| ENST00000582017.1:n.685C= | |
| ENST00000624362.2:n.1608C= |