Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34256410C>A , CM000679.2:g.34256410C>A | GRCh38 |
| NC_000017.10:g.32583429C>A , CM000679.1:g.32583429C>A | GRCh37 |
| NC_000017.9:g.29607542C>A | NCBI36 |
| NG_012123.1:g.6134C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.*67C>A | ENSP00000462156.1:n.*67C>A | |
| ENST00000624362.2:n.1126C>A | ||
| ENST00000225831.4:c.194+71C>A MANE Select | ENSP00000225831.4:n.194+71C>A | |
| ENST00000580907.5:c.*67C>A | ENSP00000462156.1:n.*67C>A | |
| ENST00000582017.1:n.203C>A | ||
| NM_002982.3:c.194+71C>A | NP_002973.1:n.194+71C>A | |
| NM_002982.4:c.194+71C>A MANE Select | NP_002973.1:n.194+71C>A |