Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74498421C>A , CM000676.2:g.74498421C>A | GRCh38 |
| NC_000014.8:g.74965124C>A , CM000676.1:g.74965124C>A | GRCh37 |
| NC_000014.7:g.74034877C>A | NCBI36 |
| NG_021486.1:g.118911G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000428.3:c.*2463G>T MANE Select | NP_000419.1:n.*2463G>T |
| ENST00000261978.9:c.*2463G>T MANE Select | ENSP00000261978.4:n.*2463G>T |
| NM_000428.2:c.*2463G>T | NP_000419.1:n.*2463G>T |
| ENST00000261978.8:c.*2463G>T | ENSP00000261978.4:n.*2463G>T |
| XM_011536765.1:c.*2463G>T | XP_011535067.1:n.*2463G>T |
| XM_011536765.2:c.*2463G>T | XP_011535067.1:n.*2463G>T |
| XM_011536766.1:c.*2463G>T | XP_011535068.1:n.*2463G>T |
| XM_011536767.1:c.*2463G>T | XP_011535069.1:n.*2463G>T |