Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21558991G>T , CM000669.2:g.21558991G>T | GRCh38 |
| NC_000007.13:g.21598609G>T , CM000669.1:g.21598609G>T | GRCh37 |
| NC_000007.12:g.21565134G>T | NCBI36 |
| NG_012886.2:g.20777G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.685G>T MANE Select | NP_001264044.1:p.Glu229Ter |
| ENST00000409508.8:c.685G>T MANE Select | ENSP00000475939.1:p.Glu229Ter |
| NM_001277115.1:c.685G>T | NP_001264044.1:p.Glu229Ter |
| ENST00000328843.10:c.685G>T | ENSP00000330671.7:p.Glu229Ter |
| ENST00000409508.7:c.685G>T | ENSP00000475939.1:p.Glu229Ter |
| ENST00000620169.4:c.685G>T | ENSP00000481693.1:p.Glu229Ter |