Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832805G= , CM000673.2:g.116832805G= | GRCh38 |
| NC_000011.9:g.116703521G= , CM000673.1:g.116703521G= | GRCh37 |
| NC_000011.8:g.116208731G= | NCBI36 |
| NG_008949.1:g.7898G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.221G= MANE Select | ENSP00000227667.2:p.Trp74= | |
| ENST00000227667.7:c.221G= | ENSP00000227667.2:p.Trp74= | |
| ENST00000375345.3:c.275G= | ENSP00000364494.1:p.Trp92= | |
| ENST00000630701.1:c.275G= | ENSP00000486182.1:p.Trp92= | |
| NM_000040.1:c.221G= | NP_000031.1:p.Trp74= | |
| NM_000040.2:c.221G= | NP_000031.1:p.Trp74= | |
| NM_000040.3:c.221G= MANE Select | NP_000031.1:p.Trp74= |