Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.299416T>G , CM000673.2:g.299416T>G | GRCh38 |
| NC_000011.9:g.299416T>G , CM000673.1:g.299416T>G | GRCh37 |
| NC_000011.8:g.289416T>G | NCBI36 |
| NG_032892.1:g.5111A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382614.2:c.75A>C MANE Select | ENSP00000372059.2:p.Thr25= | |
| NM_001025295.2:c.75A>C | NP_001020466.1:p.Thr25= | |
| NM_001025295.3:c.75A>C MANE Select | NP_001020466.1:p.Thr25= |