Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204156751G>T , CM000663.2:g.204156751G>T | GRCh38 |
| NC_000001.10:g.204125879G>T , CM000663.1:g.204125879G>T | GRCh37 |
| NC_000001.9:g.202392502G>T | NCBI36 |
| NG_012122.1:g.14587C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.744C>A MANE Select | ENSP00000272190.8:p.Asp248Glu | |
| ENST00000638118.1:c.630C>A | ENSP00000490307.1:p.Asp210Glu | |
| ENST00000272190.8:c.744C>A | ENSP00000272190.8:p.Asp248Glu | |
| NM_000537.3:c.744C>A | NP_000528.1:p.Asp248Glu | |
| NM_000537.4:c.744C>A MANE Select | NP_000528.1:p.Asp248Glu |