Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176866C>A , CM000674.2:g.21176866C>A | GRCh38 |
| NC_000012.11:g.21329800C>A , CM000674.1:g.21329800C>A | GRCh37 |
| NC_000012.10:g.21221067C>A | NCBI36 |
| NG_011745.1:g.50673C>A , LRG_1022:g.50673C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.450C>A MANE Select | ENSP00000256958.2:p.Leu150= | |
| ENST00000256958.2:c.450C>A | ENSP00000256958.2:p.Leu150= | |
| ENST00000543498.5:c.516C>A | ||
| NM_006446.4:c.450C>A , LRG_1022t1:c.450C>A | NP_006437.3:p.Leu150= | |
| NM_006446.5:c.450C>A MANE Select | NP_006437.3:p.Leu150= |