Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396996G>C , CM000671.2:g.38396996G>C | GRCh38 |
| NC_000009.11:g.38396993G>C , CM000671.1:g.38396993G>C | GRCh37 |
| NC_000009.10:g.38386993G>C | NCBI36 |
| NG_012253.1:g.9292G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377698.4:c.1248G>C MANE Select | ENSP00000366927.3:p.Glu416Asp | |
| ENST00000377698.3:c.1248G>C | ENSP00000366927.3:p.Glu416Asp | |
| NM_000692.4:c.1248G>C | NP_000683.3:p.Glu416Asp | |
| XM_011517802.1:c.1248G>C | XP_011516104.1:p.Glu416Asp | |
| XM_011517802.2:c.1248G>C | XP_011516104.1:p.Glu416Asp | |
| NM_000692.5:c.1248G>C MANE Select | NP_000683.3:p.Glu416Asp |