Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.24479706G>T , CM000680.2:g.24479706G>T | GRCh38 |
| NC_000018.9:g.22059670G>T , CM000680.1:g.22059670G>T | GRCh37 |
| NC_000018.8:g.20313668G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021624.4:c.*2144G>T MANE Select | NP_067637.2:n.*2144G>T |
| ENST00000256906.5:c.*2144G>T MANE Select | ENSP00000256906.4:n.*2144G>T |
| NM_001143828.1:c.*2144G>T | NP_001137300.1:n.*2144G>T |
| NM_001143828.2:c.*2144G>T | NP_001137300.1:n.*2144G>T |
| NM_001160166.1:c.*2949G>T | NP_001153638.1:n.*2949G>T |
| NM_001160166.2:c.*2949G>T | NP_001153638.1:n.*2949G>T |
| NM_021624.3:c.*2144G>T | NP_067637.2:n.*2144G>T |
| ENST00000256906.4:c.*2144G>T | ENSP00000256906.4:n.*2144G>T |
| XM_011526133.1:c.358-6964G>T | XP_011524435.1:n.358-6964G>T |