Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9214440G= , CM000681.2:g.9214440G= | GRCh38 |
| NC_000019.9:g.9325116G= , CM000681.1:g.9325116G= | GRCh37 |
| NC_000019.8:g.9186116G= | NCBI36 |
| NG_027953.1:g.5432C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001005191.3:c.398C= MANE Select | NP_001005191.1:p.Thr133= |
| ENST00000641669.1:c.398C= MANE Select | ENSP00000493383.1:p.Thr133= |
| NM_001005191.2:c.398C= | NP_001005191.1:p.Thr133= |
| ENST00000308682.3:c.398C= | ENSP00000310488.2:p.Thr133= |
| ENST00000641244.1:c.398C= | ENSP00000493404.1:p.Thr133= |