Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34256406T= , CM000679.2:g.34256406T= | GRCh38 |
| NC_000017.10:g.32583425T= , CM000679.1:g.32583425T= | GRCh37 |
| NC_000017.9:g.29607538T= | NCBI36 |
| NG_012123.1:g.6130T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.*63T= | ENSP00000462156.1:n.*63T= | |
| ENST00000624362.2:n.1122T= | ||
| ENST00000225831.4:c.194+67T= MANE Select | ENSP00000225831.4:n.194+67T= | |
| ENST00000580907.5:c.*63T= | ENSP00000462156.1:n.*63T= | |
| ENST00000582017.1:n.199T= | ||
| NM_002982.3:c.194+67T= | NP_002973.1:n.194+67T= | |
| NM_002982.4:c.194+67T= MANE Select | NP_002973.1:n.194+67T= |