Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20887681G>T , CM000684.2:g.20887681G>T | GRCh38 |
| NC_000022.10:g.21241969G>T , CM000684.1:g.21241969G>T | GRCh37 |
| NC_000022.9:g.19571969G>T | NCBI36 |
| NG_012152.1:g.33678G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.622G>T MANE Select | ENSP00000215730.6:p.Glu208Ter | |
| ENST00000215730.11:c.622G>T | ENSP00000215730.6:p.Glu208Ter | |
| ENST00000439214.1:c.343G>T | ENSP00000411095.1:p.Glu115Ter | |
| NM_004782.3:c.622G>T | NP_004773.1:p.Glu208Ter | |
| NM_004782.4:c.622G>T MANE Select | NP_004773.1:p.Glu208Ter |