Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1815739T>A , CM000666.2:g.1815739T>A | GRCh38 |
| NC_000004.11:g.1817466T>A , CM000666.1:g.1817466T>A | GRCh37 |
| NC_000004.10:g.1787264T>A | NCBI36 |
| NG_013063.1:g.45509A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302787.3:c.1995A>T MANE Select | ENSP00000305653.2:p.Glu665Asp | |
| ENST00000302787.2:c.1995A>T | ENSP00000305653.2:p.Glu665Asp | |
| NM_012318.2:c.1995A>T | NP_036450.1:p.Glu665Asp | |
| XM_005247970.3:c.1080A>T | XP_005248027.1:p.Glu360Asp | |
| XM_006713884.1:c.1992A>T | XP_006713947.1:p.Glu664Asp | |
| NM_012318.3:c.1995A>T MANE Select | NP_036450.1:p.Glu665Asp |