Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34255402T>C , CM000679.2:g.34255402T>C | GRCh38 |
| NC_000017.10:g.32582421T>C , CM000679.1:g.32582421T>C | GRCh37 |
| NC_000017.9:g.29606534T>C | NCBI36 |
| NG_012123.1:g.5126T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.53T>C | ENSP00000462156.1:p.Ile18Thr | |
| ENST00000624362.2:n.118T>C | ||
| ENST00000225831.4:c.53T>C MANE Select | ENSP00000225831.4:p.Ile18Thr | |
| ENST00000580907.5:c.53T>C | ENSP00000462156.1:p.Ile18Thr | |
| ENST00000624362.1:n.185T>C | ||
| NM_002982.3:c.53T>C | NP_002973.1:p.Ile18Thr | |
| NM_002982.4:c.53T>C MANE Select | NP_002973.1:p.Ile18Thr |