Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.5468257G= , CM000671.2:g.5468257G= | GRCh38 |
| NC_000009.11:g.5468257G= , CM000671.1:g.5468257G= | GRCh37 |
| NC_000009.10:g.5458257G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014143.4:c.*395G= MANE Select | NP_054862.1:n.*395G= |
| ENST00000381577.4:c.*395G= MANE Select | ENSP00000370989.3:n.*395G= |
| NM_001267706.1:c.*395G= | NP_001254635.1:n.*395G= |
| NM_001267706.2:c.*395G= | NP_001254635.1:n.*395G= |
| NM_014143.3:c.*395G= | NP_054862.1:n.*395G= |
| NR_052005.1:n.1203G= | |
| NR_052005.2:n.1164G= | |
| ENST00000381573.8:c.*395G= | ENSP00000370985.4:n.*395G= |
| ENST00000381577.3:c.*395G= | ENSP00000370989.3:n.*395G= |