Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59835814A>G , CM000673.2:g.59835814A>G | GRCh38 |
| NC_000011.9:g.59603287A>G , CM000673.1:g.59603287A>G | GRCh37 |
| NC_000011.8:g.59359863A>G | NCBI36 |
| NG_008120.1:g.14688T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005142.3:c.1067T>C MANE Select | NP_005133.2:p.Met356Thr |
| ENST00000257248.3:c.1067T>C MANE Select | ENSP00000257248.2:p.Met356Thr |
| NM_005142.2:c.1067T>C | NP_005133.2:p.Met356Thr |
| ENST00000257248.2:c.1067T>C | ENSP00000257248.2:p.Met356Thr |
| ENST00000525058.5:c.*1034T>C | ENSP00000433196.1:n.*1034T>C |
| ENST00000533067.1:n.114T>C | |
| ENST00000533847.1:n.719T>C | |
| XM_011544939.1:c.1025T>C | XP_011543241.1:p.Met342Thr |
| XM_011544939.3:c.1025T>C | XP_011543241.1:p.Met342Thr |