Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.76732741T= , CM000667.2:g.76732741T= | GRCh38 |
| NC_000005.9:g.76028566T= , CM000667.1:g.76028566T= | GRCh37 |
| NC_000005.8:g.76064322T= | NCBI36 |
| NG_032906.1:g.21699T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001992.5:c.516T= MANE Select | NP_001983.2:p.Ser172= |
| ENST00000319211.5:c.516T= MANE Select | ENSP00000321326.4:p.Ser172= |
| NM_001311313.1:c.153T= | NP_001298242.1:p.Ser51= |
| NM_001311313.2:c.153T= | NP_001298242.1:p.Ser51= |
| NM_001992.3:c.516T= | NP_001983.2:p.Ser172= |
| NM_001992.4:c.516T= | NP_001983.2:p.Ser172= |
| ENST00000319211.4:c.516T= | ENSP00000321326.4:p.Ser172= |