Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21178615T>A , CM000674.2:g.21178615T>A | GRCh38 |
| NC_000012.11:g.21331549T>A , CM000674.1:g.21331549T>A | GRCh37 |
| NC_000012.10:g.21222816T>A | NCBI36 |
| NG_011745.1:g.52422T>A , LRG_1022:g.52422T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006446.5:c.521T>A MANE Select | NP_006437.3:p.Val174Glu |
| ENST00000256958.3:c.521T>A MANE Select | ENSP00000256958.2:p.Val174Glu |
| NM_006446.4:c.521T>A , LRG_1022t1:c.521T>A | NP_006437.3:p.Val174Glu |
| ENST00000256958.2:c.521T>A | ENSP00000256958.2:p.Val174Glu |