Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52678604A>T , CM000674.2:g.52678604A>T | GRCh38 |
| NC_000012.11:g.53072388A>T , CM000674.1:g.53072388A>T | GRCh37 |
| NC_000012.10:g.51358655A>T | NCBI36 |
| NG_008364.1:g.6804T>A | |
| NG_008364.2:g.6804T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.744T>A MANE Select | ENSP00000252244.3:p.Asp248Glu | |
| NM_006121.3:c.744T>A | NP_006112.3:p.Asp248Glu | |
| NM_006121.4:c.744T>A MANE Select | NP_006112.3:p.Asp248Glu |