Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.127516183C>A , CM000668.2:g.127516183C>A | GRCh38 |
| NC_000006.11:g.127837328C>A , CM000668.1:g.127837328C>A | GRCh37 |
| NC_000006.10:g.127879021C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001400265.1:c.432G>T MANE Select | NP_001387194.1:p.Glu144Asp |
| ENST00000525778.6:c.432G>T MANE Select | ENSP00000434570.1:p.Glu144Asp |
| NM_001012279.2:c.432G>T | NP_001012279.1:p.Glu144Asp |
| NM_001012279.3:c.432G>T | NP_001012279.1:p.Glu144Asp |
| NR_174482.1:n.1277G>T | |
| ENST00000465909.2:c.432G>T | ENSP00000435559.1:p.Glu144Asp |
| ENST00000465909.3:c.432G>T | ENSP00000435559.1:p.Glu144Asp |
| ENST00000481848.6:c.432G>T | ENSP00000455908.1:p.Glu144Asp |
| ENST00000525778.5:c.432G>T | ENSP00000434570.1:p.Glu144Asp |