Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.121048428T>A , CM000685.2:g.121048428T>A | GRCh38 |
| NC_000023.10:g.120182282T>A , CM000685.1:g.120182282T>A | GRCh37 |
| NC_000023.9:g.120009963T>A | NCBI36 |
| NG_016456.1:g.5821T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328078.3:c.744T>A MANE Select | ENSP00000327589.1:p.Asp248Glu | |
| ENST00000328078.2:c.744T>A | ENSP00000327589.1:p.Asp248Glu | |
| NM_012084.3:c.744T>A | NP_036216.2:p.Asp248Glu | |
| NM_012084.4:c.744T>A MANE Select | NP_036216.2:p.Asp248Glu |