Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49456101G= , CM000668.2:g.49456101G= | GRCh38 |
| NC_000006.11:g.49423814G= , CM000668.1:g.49423814G= | GRCh37 |
| NC_000006.10:g.49531773G= | NCBI36 |
| NG_007100.1:g.12039C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.890C= MANE Select | ENSP00000274813.3:p.Thr297= | |
| ENST00000274813.3:c.890C= | ENSP00000274813.3:p.Thr297= | |
| NM_000255.3:c.890C= | NP_000246.2:p.Thr297= | |
| XM_005249143.2:c.890C= | XP_005249200.1:p.Thr297= | |
| XM_005249143.3:c.890C= | XP_005249200.1:p.Thr297= | |
| NM_000255.4:c.890C= MANE Select | NP_000246.2:p.Thr297= |