Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34256408A>G , CM000679.2:g.34256408A>G | GRCh38 |
| NC_000017.10:g.32583427A>G , CM000679.1:g.32583427A>G | GRCh37 |
| NC_000017.9:g.29607540A>G | NCBI36 |
| NG_012123.1:g.6132A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.*65A>G | ENSP00000462156.1:n.*65A>G | |
| ENST00000624362.2:n.1124A>G | ||
| ENST00000225831.4:c.194+69A>G MANE Select | ENSP00000225831.4:n.194+69A>G | |
| ENST00000580907.5:c.*65A>G | ENSP00000462156.1:n.*65A>G | |
| ENST00000582017.1:n.201A>G | ||
| NM_002982.3:c.194+69A>G | NP_002973.1:n.194+69A>G | |
| NM_002982.4:c.194+69A>G MANE Select | NP_002973.1:n.194+69A>G |