Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.226798607G>A , CM000664.2:g.226798607G>A | GRCh38 |
| NC_000002.11:g.227663323G>A , CM000664.1:g.227663323G>A | GRCh37 |
| NC_000002.10:g.227371567G>A | NCBI36 |
| NG_015830.1:g.5184C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005544.3:c.132C>T MANE Select | NP_005535.1:p.Leu44= |
| ENST00000305123.6:c.132C>T MANE Select | ENSP00000304895.4:p.Leu44= |
| NM_005544.2:c.132C>T | NP_005535.1:p.Leu44= |
| ENST00000305123.5:c.132C>T | ENSP00000304895.4:p.Leu44= |