Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.155900534T>C , CM000685.2:g.155900534T>C | GRCh38 |
| NC_000023.10:g.155130198T>C , CM000685.1:g.155130198T>C | GRCh37 |
| NC_000023.9:g.154783392T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286448.12:c.380T>C MANE Select | ENSP00000286448.6:p.Met127Thr | |
| ENST00000262640.11:c.380T>C | ENSP00000262640.6:p.Met127Thr | |
| ENST00000286448.11:c.380T>C | ENSP00000286448.6:p.Met127Thr | |
| ENST00000460621.6:c.257T>C | ENSP00000427822.1:p.Met86Thr | |
| ENST00000463317.6:n.462T>C | ||
| ENST00000479687.6:n.501T>C | ||
| ENST00000488344.6:c.*142T>C | ENSP00000430039.1:n.*142T>C | |
| XM_011531188.1:c.239T>C | XP_011529490.1:p.Met80Thr | |
| XM_017029760.1:c.239T>C | XP_016885249.1:p.Met80Thr |