| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92632625T>C , CM000672.2:g.92632625T>C | GRCh38 |
| NC_000010.10:g.94392382T>C , CM000672.1:g.94392382T>C | GRCh37 |
| NC_000010.9:g.94382362T>C | NCBI36 |
| NG_032580.1:g.44558T>C |
| HGVS | Amino-acid Change |
|---|---|
| NM_004523.4:c.1634T>C MANE Select | NP_004514.2:p.Met545Thr |
| ENST00000260731.5:c.1634T>C MANE Select | ENSP00000260731.3:p.Met545Thr |
| NM_004523.3:c.1634T>C | NP_004514.2:p.Met545Thr |
| ENST00000260731.4:c.1634T>C | ENSP00000260731.3:p.Met545Thr |
| ENST00000676621.1:c.*152T>C | ENSP00000503639.1:n.*152T>C |
| ENST00000676647.1:c.1427T>C | ENSP00000503394.1:p.Met476Thr |
| ENST00000676757.1:c.1427T>C | ENSP00000504289.1:p.Met476Thr |
| ENST00000677720.1:c.1634T>C | ENSP00000504840.1:p.Met545Thr |