Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272661A>T , CM000676.2:g.91272661A>T | GRCh38 |
| NC_000014.8:g.91739005A>T , CM000676.1:g.91739005A>T | GRCh37 |
| NC_000014.7:g.90808758A>T | NCBI36 |
| NG_033118.1:g.150184T>A | |
| NG_033118.2:g.150184T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.6051T>A MANE Select | ENSP00000374507.6:p.Asp2017Glu | |
| ENST00000331194.8:c.1485T>A | ENSP00000330332.8:p.Asp495Glu | |
| ENST00000389857.10:c.6051T>A | ENSP00000374507.6:p.Asp2017Glu | |
| ENST00000556726.5:c.2279T>A | ||
| NM_001080414.3:c.6051T>A | NP_001073883.2:p.Asp2017Glu | |
| XM_011536796.1:c.5943T>A | XP_011535098.1:p.Asp1981Glu | |
| XM_011536796.2:c.5943T>A | XP_011535098.1:p.Asp1981Glu | |
| XM_017021336.1:c.3132T>A | XP_016876825.1:p.Asp1044Glu | |
| NM_001080414.4:c.6051T>A MANE Select | NP_001073883.2:p.Asp2017Glu |