Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97584820C= , CM000672.2:g.97584820C= | GRCh38 |
| NC_000010.10:g.99344577C= , CM000672.1:g.99344577C= | GRCh37 |
| NC_000010.9:g.99334567C= | NCBI36 |
| NG_027922.1:g.5476C= | |
| NG_034079.1:g.17380C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138413.4:c.117C= MANE Select | NP_612422.2:p.Tyr39= |
| ENST00000370646.9:c.117C= MANE Select | ENSP00000359680.4:p.Tyr39= |
| NM_001134670.1:c.117C= | NP_001128142.1:p.Tyr39= |
| NM_001134670.2:c.117C= | NP_001128142.1:p.Tyr39= |
| NM_138413.3:c.117C= | NP_612422.2:p.Tyr39= |
| ENST00000370646.8:c.117C= | ENSP00000359680.4:p.Tyr39= |
| ENST00000370647.8:c.117C= | ENSP00000359681.4:p.Tyr39= |
| ENST00000370649.3:c.117C= | ENSP00000359683.3:p.Tyr39= |
| ENST00000465608.1:n.498C= |