Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.5468185G= , CM000671.2:g.5468185G= | GRCh38 |
| NC_000009.11:g.5468185G= , CM000671.1:g.5468185G= | GRCh37 |
| NC_000009.10:g.5458185G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381577.4:c.*323G= MANE Select | ENSP00000370989.3:n.*323G= | |
| ENST00000381573.8:c.*323G= | ENSP00000370985.4:n.*323G= | |
| ENST00000381577.3:c.*323G= | ENSP00000370989.3:n.*323G= | |
| NM_001267706.1:c.*323G= | NP_001254635.1:n.*323G= | |
| NM_014143.3:c.*323G= | NP_054862.1:n.*323G= | |
| NR_052005.1:n.1131G= | ||
| NM_014143.4:c.*323G= MANE Select | NP_054862.1:n.*323G= | |
| NR_052005.2:n.1092G= | ||
| NM_001267706.2:c.*323G= | NP_001254635.1:n.*323G= |