Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34255382G>A , CM000679.2:g.34255382G>A | GRCh38 |
| NC_000017.10:g.32582401G>A , CM000679.1:g.32582401G>A | GRCh37 |
| NC_000017.9:g.29606514G>A | NCBI36 |
| NG_012123.1:g.5106G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.33G>A | ENSP00000462156.1:p.Leu11= | |
| ENST00000624362.2:n.98G>A | ||
| ENST00000225831.4:c.33G>A MANE Select | ENSP00000225831.4:p.Leu11= | |
| ENST00000580907.5:c.33G>A | ENSP00000462156.1:p.Leu11= | |
| ENST00000624362.1:n.165G>A | ||
| NM_002982.3:c.33G>A | NP_002973.1:p.Leu11= | |
| NM_002982.4:c.33G>A MANE Select | NP_002973.1:p.Leu11= |