Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49457845A>G , CM000668.2:g.49457845A>G | GRCh38 |
| NC_000006.11:g.49425558A>G , CM000668.1:g.49425558A>G | GRCh37 |
| NC_000006.10:g.49533517A>G | NCBI36 |
| NG_007100.1:g.10295T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000255.4:c.599T>C MANE Select | NP_000246.2:p.Ile200Thr |
| ENST00000274813.4:c.599T>C MANE Select | ENSP00000274813.3:p.Ile200Thr |
| NM_000255.3:c.599T>C | NP_000246.2:p.Ile200Thr |
| ENST00000274813.3:c.599T>C | ENSP00000274813.3:p.Ile200Thr |
| XM_005249143.2:c.599T>C | XP_005249200.1:p.Ile200Thr |
| XM_005249143.3:c.599T>C | XP_005249200.1:p.Ile200Thr |