Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64721691G>T , CM000674.2:g.64721691G>T | GRCh38 |
| NC_000012.11:g.65115471G>T , CM000674.1:g.65115471G>T | GRCh37 |
| NC_000012.10:g.63401738G>T | NCBI36 |
| NG_008955.1:g.42756C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002076.4:c.1323C>A MANE Select | NP_002067.1:p.Asp441Glu |
| ENST00000258145.8:c.1323C>A MANE Select | ENSP00000258145.3:p.Asp441Glu |
| NM_002076.3:c.1323C>A | NP_002067.1:p.Asp441Glu |
| ENST00000258145.7:c.1323C>A | ENSP00000258145.3:p.Asp441Glu |
| ENST00000418919.6:c.1155C>A | ENSP00000413130.2:p.Asp385Glu |
| ENST00000537823.1:n.322C>A | |
| ENST00000540196.5:c.679C>A | |
| ENST00000541781.5:n.1378C>A | |
| ENST00000542058.5:c.1263C>A | ENSP00000444819.1:p.Asp421Glu |
| ENST00000543646.5:c.1419C>A | ENSP00000438497.1:p.Asp473Glu |