Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49457753A= , CM000668.2:g.49457753A= | GRCh38 |
| NC_000006.11:g.49425466A= , CM000668.1:g.49425466A= | GRCh37 |
| NC_000006.10:g.49533425A= | NCBI36 |
| NG_007100.1:g.10387T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.691T= MANE Select | ENSP00000274813.3:p.Tyr231= | |
| ENST00000274813.3:c.691T= | ENSP00000274813.3:p.Tyr231= | |
| NM_000255.3:c.691T= | NP_000246.2:p.Tyr231= | |
| XM_005249143.2:c.691T= | XP_005249200.1:p.Tyr231= | |
| XM_005249143.3:c.691T= | XP_005249200.1:p.Tyr231= | |
| NM_000255.4:c.691T= MANE Select | NP_000246.2:p.Tyr231= |