Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180803451A= , CM000663.2:g.180803451A= | GRCh38 |
| NC_000001.10:g.180772587A= , CM000663.1:g.180772587A= | GRCh37 |
| NC_000001.9:g.179039210A= | NCBI36 |
| NG_050964.1:g.176442A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367590.9:c.287A= MANE Select | ENSP00000356562.4:p.Asp96= | |
| ENST00000367589.3:c.287A= | ENSP00000356561.3:p.Asp96= | |
| ENST00000367590.8:c.287A= | ENSP00000356562.4:p.Asp96= | |
| NM_001135669.1:c.287A= | NP_001129141.1:p.Asp96= | |
| NM_004736.3:c.287A= | NP_004727.2:p.Asp96= | |
| NM_001328662.1:c.287A= | NP_001315591.1:p.Asp96= | |
| NR_137330.1:n.479A= | ||
| NM_001135669.2:c.287A= | NP_001129141.1:p.Asp96= | |
| NM_001328662.2:c.287A= | NP_001315591.1:p.Asp96= | |
| NM_004736.4:c.287A= MANE Select | NP_004727.2:p.Asp96= | |
| NR_137330.2:n.467A= |